dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
Reference SNP (rs) Report
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.
rs7141420
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr14:79433111 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- C>G / C>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
C=0.438717 (116124/264690, TOPMED)C=0.462595 (104776/226496, ALFA)C=0.468373 (96052/205076, GENOGRAPHIC) (+ 21 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
- NRXN3 : Intron Variant
- Publications
- 4 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Population | Group | Sample Size | Ref Allele | Alt Allele |
---|---|---|---|---|
Total | Global | 226496 | C=0.462595 | T=0.537405 |
European | Sub | 192032 | C=0.472078 | T=0.527922 |
African | Sub | 10820 | C=0.41275 | T=0.58725 |
African Others | Sub | 360 | C=0.386 | T=0.614 |
African American | Sub | 10460 | C=0.41367 | T=0.58633 |
Asian | Sub | 796 | C=0.545 | T=0.455 |
East Asian | Sub | 618 | C=0.573 | T=0.427 |
Other Asian | Sub | 178 | C=0.449 | T=0.551 |
Latin American 1 | Sub | 990 | C=0.432 | T=0.568 |
Latin American 2 | Sub | 9060 | C=0.3425 | T=0.6575 |
South Asian | Sub | 5056 | C=0.4248 | T=0.5752 |
Other | Sub | 7742 | C=0.4576 | T=0.5424 |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
DownloadStudy | Population | Group | Sample Size | Ref Allele | Alt Allele |
---|---|---|---|---|---|
TopMed | Global | Study-wide | 264690 | C=0.438717 | T=0.561283 |
Allele Frequency Aggregator | Total | Global | 226496 | C=0.462595 | T=0.537405 |
Allele Frequency Aggregator | European | Sub | 192032 | C=0.472078 | T=0.527922 |
Allele Frequency Aggregator | African | Sub | 10820 | C=0.41275 | T=0.58725 |
Allele Frequency Aggregator | Latin American 2 | Sub | 9060 | C=0.3425 | T=0.6575 |
Allele Frequency Aggregator | Other | Sub | 7742 | C=0.4576 | T=0.5424 |
Allele Frequency Aggregator | South Asian | Sub | 5056 | C=0.4248 | T=0.5752 |
Allele Frequency Aggregator | Latin American 1 | Sub | 990 | C=0.432 | T=0.568 |
Allele Frequency Aggregator | Asian | Sub | 796 | C=0.545 | T=0.455 |
Genographic Project | Global | Study-wide | 205076 | C=0.468373 | T=0.531627 |
gnomAD - Genomes | Global | Study-wide | 139960 | C=0.441812 | T=0.558188 |
gnomAD - Genomes | European | Sub | 75824 | C=0.46381 | T=0.53619 |
gnomAD - Genomes | African | Sub | 41912 | C=0.41036 | T=0.58964 |
gnomAD - Genomes | American | Sub | 13624 | C=0.37441 | T=0.62559 |
gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | C=0.5102 | T=0.4898 |
gnomAD - Genomes | East Asian | Sub | 3128 | C=0.5527 | T=0.4473 |
gnomAD - Genomes | Other | Sub | 2150 | C=0.4391 | T=0.5609 |
14KJPN | JAPANESE | Study-wide | 28258 | C=0.64916 | T=0.35084 |
8.3KJPN | JAPANESE | Study-wide | 16760 | C=0.64773 | T=0.35227 |
1000Genomes_30x | Global | Study-wide | 6404 | C=0.4316 | T=0.5684 |
1000Genomes_30x | African | Sub | 1786 | C=0.3852 | T=0.6148 |
1000Genomes_30x | Europe | Sub | 1266 | C=0.4668 | T=0.5332 |
1000Genomes_30x | South Asian | Sub | 1202 | C=0.4093 | T=0.5907 |
1000Genomes_30x | East Asian | Sub | 1170 | C=0.5641 | T=0.4359 |
1000Genomes_30x | American | Sub | 980 | C=0.340 | T=0.660 |
1000Genomes | Global | Study-wide | 5008 | C=0.4375 | T=0.5625 |
1000Genomes | African | Sub | 1322 | C=0.3828 | T=0.6172 |
1000Genomes | East Asian | Sub | 1008 | C=0.5685 | T=0.4315 |
1000Genomes | Europe | Sub | 1006 | C=0.4702 | T=0.5298 |
1000Genomes | South Asian | Sub | 978 | C=0.413 | T=0.587 |
1000Genomes | American | Sub | 694 | C=0.339 | T=0.661 |
Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | C=0.4424 | T=0.5576 |
The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.4961 | T=0.5039 |
UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.4682 | T=0.5318 |
KOREAN population from KRGDB | KOREAN | Study-wide | 2922 | C=0.6020 | G=0.0000, T=0.3980 |
HGDP-CEPH-db Supplement 1 | Global | Study-wide | 2082 | C=0.4476 | T=0.5524 |
HGDP-CEPH-db Supplement 1 | Est_Asia | Sub | 468 | C=0.504 | T=0.496 |
HGDP-CEPH-db Supplement 1 | Central_South_Asia | Sub | 414 | C=0.428 | T=0.572 |
HGDP-CEPH-db Supplement 1 | Middle_Est | Sub | 350 | C=0.463 | T=0.537 |
HGDP-CEPH-db Supplement 1 | Europe | Sub | 320 | C=0.466 | T=0.534 |
HGDP-CEPH-db Supplement 1 | Africa | Sub | 242 | C=0.459 | T=0.541 |
HGDP-CEPH-db Supplement 1 | America | Sub | 216 | C=0.259 | T=0.741 |
HGDP-CEPH-db Supplement 1 | Oceania | Sub | 72 | C=0.57 | T=0.43 |
HapMap | Global | Study-wide | 1888 | C=0.4709 | T=0.5291 |
HapMap | American | Sub | 766 | C=0.454 | T=0.546 |
HapMap | African | Sub | 692 | C=0.413 | T=0.587 |
HapMap | Asian | Sub | 254 | C=0.646 | T=0.354 |
HapMap | Europe | Sub | 176 | C=0.517 | T=0.483 |
Korean Genome Project | KOREAN | Study-wide | 1832 | C=0.5950 | T=0.4050 |
Genome-wide autozygosity in Daghestan | Global | Study-wide | 1134 | C=0.4330 | T=0.5670 |
Genome-wide autozygosity in Daghestan | Daghestan | Sub | 626 | C=0.414 | T=0.586 |
Genome-wide autozygosity in Daghestan | Near_East | Sub | 144 | C=0.493 | T=0.507 |
Genome-wide autozygosity in Daghestan | Central Asia | Sub | 122 | C=0.484 | T=0.516 |
Genome-wide autozygosity in Daghestan | Europe | Sub | 108 | C=0.454 | T=0.546 |
Genome-wide autozygosity in Daghestan | South Asian | Sub | 98 | C=0.42 | T=0.58 |
Genome-wide autozygosity in Daghestan | Caucasus | Sub | 36 | C=0.33 | T=0.67 |
Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | C=0.509 | T=0.491 |
Northern Sweden | ACPOP | Study-wide | 600 | C=0.497 | T=0.503 |
SGDP_PRJ | Global | Study-wide | 444 | C=0.304 | T=0.696 |
Qatari | Global | Study-wide | 216 | C=0.417 | T=0.583 |
A Vietnamese Genetic Variation Database | Global | Study-wide | 214 | C=0.463 | T=0.537 |
Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 54 | C=0.41 | T=0.59 |
Siberian | Global | Study-wide | 46 | C=0.28 | T=0.72 |
The Danish reference pan genome | Danish | Study-wide | 40 | C=0.55 | T=0.45 |
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Sequence name | Change |
---|---|
GRCh38.p14 chr 14 | NC_000014.9:g.79433111C>G |
GRCh38.p14 chr 14 | NC_000014.9:g.79433111C>T |
GRCh37.p13 chr 14 | NC_000014.8:g.79899454C>G |
GRCh37.p13 chr 14 | NC_000014.8:g.79899454C>T |
NRXN3 RefSeqGene | NG_052991.1:g.1267739C>G |
NRXN3 RefSeqGene | NG_052991.1:g.1267739C>T |
Molecule type | Change | Amino acid[Codon] | SO Term |
---|---|---|---|
NRXN3 transcript variant 3 |
NM_001105250.3:c.248-3411… NM_001105250.3:c.248-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant 4 |
NM_001272020.2:c.248-3411… NM_001272020.2:c.248-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant 7 |
NM_001330195.2:c.3263-341… NM_001330195.2:c.3263-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant 9 |
NM_001366425.1:c.3263-341… NM_001366425.1:c.3263-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant 10 |
NM_001366426.1:c.3275-341… NM_001366426.1:c.3275-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant 1 |
NM_004796.6:c.2144-34110C… NM_004796.6:c.2144-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant 2 | NM_138970.5:c.248-34110C>G | N/A | Intron Variant |
NRXN3 transcript variant 5 | NR_073546.2:n. | N/A | Intron Variant |
NRXN3 transcript variant 6 | NR_073547.2:n. | N/A | Intron Variant |
NRXN3 transcript variant 8 | NR_158973.1:n. | N/A | Intron Variant |
NRXN3 transcript variant 11 | NR_158974.1:n. | N/A | Intron Variant |
NRXN3 transcript variant 12 | NR_158975.1:n. | N/A | Intron Variant |
NRXN3 transcript variant X2 |
XM_005268218.4:c.3299-341… XM_005268218.4:c.3299-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant X3 |
XM_006720322.3:c.3287-341… XM_006720322.3:c.3287-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant X1 |
XM_011537363.2:c.3299-341… XM_011537363.2:c.3299-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant X4 |
XM_011537366.2:c.3275-341… XM_011537366.2:c.3275-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant X15 |
XM_011537368.2:c.3299-341… XM_011537368.2:c.3299-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant X16 |
XM_011537369.2:c.3299-341… XM_011537369.2:c.3299-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant X19 |
XM_011537370.2:c.3275-341… XM_011537370.2:c.3275-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant X27 |
XM_011537371.2:c.3299-341… XM_011537371.2:c.3299-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant X28 |
XM_011537372.2:c.3299-341… XM_011537372.2:c.3299-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant X6 |
XM_017021794.2:c.3263-341… XM_017021794.2:c.3263-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant X8 |
XM_017021798.2:c.3236-341… XM_017021798.2:c.3236-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant X10 |
XM_017021799.3:c.3299-341… XM_017021799.3:c.3299-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant X23 |
XM_017021800.2:c.3299-341… XM_017021800.2:c.3299-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant X31 |
XM_017021805.2:c.3263-341… XM_017021805.2:c.3263-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant X13 |
XM_024449751.2:c.3236-341… XM_024449751.2:c.3236-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant X44 |
XM_024449752.2:c.3287-341… XM_024449752.2:c.3287-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant X37 |
XM_024449753.2:c.3236-341… XM_024449753.2:c.3236-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant X5 |
XM_047431939.1:c.3275-341… XM_047431939.1:c.3275-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant X7 |
XM_047431940.1:c.3263-341… XM_047431940.1:c.3263-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant X9 |
XM_047431941.1:c.3236-341… XM_047431941.1:c.3236-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant X11 |
XM_047431942.1:c.3263-341… XM_047431942.1:c.3263-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant X12 |
XM_047431943.1:c.3263-341… XM_047431943.1:c.3263-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant X14 |
XM_047431944.1:c.3236-341… XM_047431944.1:c.3236-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant X17 |
XM_047431945.1:c.3287-341… XM_047431945.1:c.3287-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant X18 |
XM_047431946.1:c.3275-341… XM_047431946.1:c.3275-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant X20 |
XM_047431947.1:c.3263-341… XM_047431947.1:c.3263-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant X21 |
XM_047431948.1:c.3236-341… XM_047431948.1:c.3236-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant X22 |
XM_047431949.1:c.3236-341… XM_047431949.1:c.3236-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant X24 |
XM_047431950.1:c.3287-341… XM_047431950.1:c.3287-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant X25 |
XM_047431951.1:c.3287-341… XM_047431951.1:c.3287-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant X26 |
XM_047431952.1:c.3263-341… XM_047431952.1:c.3263-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant X29 |
XM_047431953.1:c.3275-341… XM_047431953.1:c.3275-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant X30 |
XM_047431954.1:c.3263-341… XM_047431954.1:c.3263-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant X32 |
XM_047431955.1:c.3236-341… XM_047431955.1:c.3236-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant X33 |
XM_047431956.1:c.3236-341… XM_047431956.1:c.3236-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant X34 |
XM_047431957.1:c.3287-341… XM_047431957.1:c.3287-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant X35 |
XM_047431958.1:c.3263-341… XM_047431958.1:c.3263-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant X36 |
XM_047431959.1:c.3263-341… XM_047431959.1:c.3263-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant X38 |
XM_047431960.1:c.3299-341… XM_047431960.1:c.3299-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant X39 |
XM_047431961.1:c.3287-341… XM_047431961.1:c.3287-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant X40 |
XM_047431963.1:c.3236-341… XM_047431963.1:c.3236-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant X42 |
XM_047431964.1:c.3263-341… XM_047431964.1:c.3263-34110C>G |
N/A | Intron Variant |
NRXN3 transcript variant X41 | XR_001750609.1:n. | N/A | Intron Variant |
NRXN3 transcript variant X43 | XR_007064051.1:n. | N/A | Intron Variant |
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
Placement | C= | G | T |
---|---|---|---|
GRCh38.p14 chr 14 | NC_000014.9:g.79433111= | NC_000014.9:g.79433111C>G | NC_000014.9:g.79433111C>T |
GRCh37.p13 chr 14 | NC_000014.8:g.79899454= | NC_000014.8:g.79899454C>G | NC_000014.8:g.79899454C>T |
NRXN3 RefSeqGene | NG_052991.1:g.1267739= | NG_052991.1:g.1267739C>G | NG_052991.1:g.1267739C>T |
NRXN3 transcript variant 3 | NM_001105250.2:c.248-34110= | NM_001105250.2:c.248-34110C>G | NM_001105250.2:c.248-34110C>T |
NRXN3 transcript variant 3 | NM_001105250.3:c.248-34110= | NM_001105250.3:c.248-34110C>G | NM_001105250.3:c.248-34110C>T |
NRXN3 transcript variant 4 | NM_001272020.1:c.248-34110= | NM_001272020.1:c.248-34110C>G | NM_001272020.1:c.248-34110C>T |
NRXN3 transcript variant 4 | NM_001272020.2:c.248-34110= | NM_001272020.2:c.248-34110C>G | NM_001272020.2:c.248-34110C>T |
NRXN3 transcript variant 7 | NM_001330195.2:c.3263-34110= | NM_001330195.2:c.3263-34110C>G | NM_001330195.2:c.3263-34110C>T |
NRXN3 transcript variant 9 | NM_001366425.1:c.3263-34110= | NM_001366425.1:c.3263-34110C>G | NM_001366425.1:c.3263-34110C>T |
NRXN3 transcript variant 10 | NM_001366426.1:c.3275-34110= | NM_001366426.1:c.3275-34110C>G | NM_001366426.1:c.3275-34110C>T |
NRXN3 transcript variant 1 | NM_004796.5:c.2144-34110= | NM_004796.5:c.2144-34110C>G | NM_004796.5:c.2144-34110C>T |
NRXN3 transcript variant 1 | NM_004796.6:c.2144-34110= | NM_004796.6:c.2144-34110C>G | NM_004796.6:c.2144-34110C>T |
NRXN3 transcript variant 2 | NM_138970.4:c.248-34110= | NM_138970.4:c.248-34110C>G | NM_138970.4:c.248-34110C>T |
NRXN3 transcript variant 2 | NM_138970.5:c.248-34110= | NM_138970.5:c.248-34110C>G | NM_138970.5:c.248-34110C>T |
NRXN3 transcript variant X1 | XM_005268218.1:c.3299-34110= | XM_005268218.1:c.3299-34110C>G | XM_005268218.1:c.3299-34110C>T |
NRXN3 transcript variant X2 | XM_005268218.4:c.3299-34110= | XM_005268218.4:c.3299-34110C>G | XM_005268218.4:c.3299-34110C>T |
NRXN3 transcript variant X3 | XM_006720322.3:c.3287-34110= | XM_006720322.3:c.3287-34110C>G | XM_006720322.3:c.3287-34110C>T |
NRXN3 transcript variant X1 | XM_011537363.2:c.3299-34110= | XM_011537363.2:c.3299-34110C>G | XM_011537363.2:c.3299-34110C>T |
NRXN3 transcript variant X4 | XM_011537366.2:c.3275-34110= | XM_011537366.2:c.3275-34110C>G | XM_011537366.2:c.3275-34110C>T |
NRXN3 transcript variant X15 | XM_011537368.2:c.3299-34110= | XM_011537368.2:c.3299-34110C>G | XM_011537368.2:c.3299-34110C>T |
NRXN3 transcript variant X16 | XM_011537369.2:c.3299-34110= | XM_011537369.2:c.3299-34110C>G | XM_011537369.2:c.3299-34110C>T |
NRXN3 transcript variant X19 | XM_011537370.2:c.3275-34110= | XM_011537370.2:c.3275-34110C>G | XM_011537370.2:c.3275-34110C>T |
NRXN3 transcript variant X27 | XM_011537371.2:c.3299-34110= | XM_011537371.2:c.3299-34110C>G | XM_011537371.2:c.3299-34110C>T |
NRXN3 transcript variant X28 | XM_011537372.2:c.3299-34110= | XM_011537372.2:c.3299-34110C>G | XM_011537372.2:c.3299-34110C>T |
NRXN3 transcript variant X6 | XM_017021794.2:c.3263-34110= | XM_017021794.2:c.3263-34110C>G | XM_017021794.2:c.3263-34110C>T |
NRXN3 transcript variant X8 | XM_017021798.2:c.3236-34110= | XM_017021798.2:c.3236-34110C>G | XM_017021798.2:c.3236-34110C>T |
NRXN3 transcript variant X10 | XM_017021799.3:c.3299-34110= | XM_017021799.3:c.3299-34110C>G | XM_017021799.3:c.3299-34110C>T |
NRXN3 transcript variant X23 | XM_017021800.2:c.3299-34110= | XM_017021800.2:c.3299-34110C>G | XM_017021800.2:c.3299-34110C>T |
NRXN3 transcript variant X31 | XM_017021805.2:c.3263-34110= | XM_017021805.2:c.3263-34110C>G | XM_017021805.2:c.3263-34110C>T |
NRXN3 transcript variant X13 | XM_024449751.2:c.3236-34110= | XM_024449751.2:c.3236-34110C>G | XM_024449751.2:c.3236-34110C>T |
NRXN3 transcript variant X44 | XM_024449752.2:c.3287-34110= | XM_024449752.2:c.3287-34110C>G | XM_024449752.2:c.3287-34110C>T |
NRXN3 transcript variant X37 | XM_024449753.2:c.3236-34110= | XM_024449753.2:c.3236-34110C>G | XM_024449753.2:c.3236-34110C>T |
NRXN3 transcript variant X5 | XM_047431939.1:c.3275-34110= | XM_047431939.1:c.3275-34110C>G | XM_047431939.1:c.3275-34110C>T |
NRXN3 transcript variant X7 | XM_047431940.1:c.3263-34110= | XM_047431940.1:c.3263-34110C>G | XM_047431940.1:c.3263-34110C>T |
NRXN3 transcript variant X9 | XM_047431941.1:c.3236-34110= | XM_047431941.1:c.3236-34110C>G | XM_047431941.1:c.3236-34110C>T |
NRXN3 transcript variant X11 | XM_047431942.1:c.3263-34110= | XM_047431942.1:c.3263-34110C>G | XM_047431942.1:c.3263-34110C>T |
NRXN3 transcript variant X12 | XM_047431943.1:c.3263-34110= | XM_047431943.1:c.3263-34110C>G | XM_047431943.1:c.3263-34110C>T |
NRXN3 transcript variant X14 | XM_047431944.1:c.3236-34110= | XM_047431944.1:c.3236-34110C>G | XM_047431944.1:c.3236-34110C>T |
NRXN3 transcript variant X17 | XM_047431945.1:c.3287-34110= | XM_047431945.1:c.3287-34110C>G | XM_047431945.1:c.3287-34110C>T |
NRXN3 transcript variant X18 | XM_047431946.1:c.3275-34110= | XM_047431946.1:c.3275-34110C>G | XM_047431946.1:c.3275-34110C>T |
NRXN3 transcript variant X20 | XM_047431947.1:c.3263-34110= | XM_047431947.1:c.3263-34110C>G | XM_047431947.1:c.3263-34110C>T |
NRXN3 transcript variant X21 | XM_047431948.1:c.3236-34110= | XM_047431948.1:c.3236-34110C>G | XM_047431948.1:c.3236-34110C>T |
NRXN3 transcript variant X22 | XM_047431949.1:c.3236-34110= | XM_047431949.1:c.3236-34110C>G | XM_047431949.1:c.3236-34110C>T |
NRXN3 transcript variant X24 | XM_047431950.1:c.3287-34110= | XM_047431950.1:c.3287-34110C>G | XM_047431950.1:c.3287-34110C>T |
NRXN3 transcript variant X25 | XM_047431951.1:c.3287-34110= | XM_047431951.1:c.3287-34110C>G | XM_047431951.1:c.3287-34110C>T |
NRXN3 transcript variant X26 | XM_047431952.1:c.3263-34110= | XM_047431952.1:c.3263-34110C>G | XM_047431952.1:c.3263-34110C>T |
NRXN3 transcript variant X29 | XM_047431953.1:c.3275-34110= | XM_047431953.1:c.3275-34110C>G | XM_047431953.1:c.3275-34110C>T |
NRXN3 transcript variant X30 | XM_047431954.1:c.3263-34110= | XM_047431954.1:c.3263-34110C>G | XM_047431954.1:c.3263-34110C>T |
NRXN3 transcript variant X32 | XM_047431955.1:c.3236-34110= | XM_047431955.1:c.3236-34110C>G | XM_047431955.1:c.3236-34110C>T |
NRXN3 transcript variant X33 | XM_047431956.1:c.3236-34110= | XM_047431956.1:c.3236-34110C>G | XM_047431956.1:c.3236-34110C>T |
NRXN3 transcript variant X34 | XM_047431957.1:c.3287-34110= | XM_047431957.1:c.3287-34110C>G | XM_047431957.1:c.3287-34110C>T |
NRXN3 transcript variant X35 | XM_047431958.1:c.3263-34110= | XM_047431958.1:c.3263-34110C>G | XM_047431958.1:c.3263-34110C>T |
NRXN3 transcript variant X36 | XM_047431959.1:c.3263-34110= | XM_047431959.1:c.3263-34110C>G | XM_047431959.1:c.3263-34110C>T |
NRXN3 transcript variant X38 | XM_047431960.1:c.3299-34110= | XM_047431960.1:c.3299-34110C>G | XM_047431960.1:c.3299-34110C>T |
NRXN3 transcript variant X39 | XM_047431961.1:c.3287-34110= | XM_047431961.1:c.3287-34110C>G | XM_047431961.1:c.3287-34110C>T |
NRXN3 transcript variant X40 | XM_047431963.1:c.3236-34110= | XM_047431963.1:c.3236-34110C>G | XM_047431963.1:c.3236-34110C>T |
NRXN3 transcript variant X42 | XM_047431964.1:c.3263-34110= | XM_047431964.1:c.3263-34110C>G | XM_047431964.1:c.3263-34110C>T |
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
No | Submitter | Submission ID | Date (Build) |
---|---|---|---|
1 | BCM_SSAHASNP | ss10724089 | Jul 11, 2003 (116) |
2 | CSHL-HAPMAP | ss16633110 | Feb 27, 2004 (120) |
3 | PERLEGEN | ss24604035 | Sep 20, 2004 (123) |
4 | ABI | ss43661414 | Mar 13, 2006 (126) |
5 | AFFY | ss66315426 | Dec 01, 2006 (127) |
6 | ILLUMINA | ss67545904 | Dec 01, 2006 (127) |
7 | ILLUMINA | ss67919532 | Dec 01, 2006 (127) |
8 | ILLUMINA | ss68270565 | Dec 12, 2006 (127) |
9 | PERLEGEN | ss69163409 | May 17, 2007 (127) |
10 | ILLUMINA | ss70910977 | May 24, 2008 (130) |
11 | ILLUMINA | ss71508645 | May 17, 2007 (127) |
12 | ILLUMINA | ss75674223 | Dec 07, 2007 (129) |
13 | AFFY | ss75999267 | Dec 08, 2007 (130) |
14 | KRIBB_YJKIM | ss84622985 | Dec 15, 2007 (130) |
15 | BCMHGSC_JDW | ss90006753 | Mar 24, 2008 (129) |
16 | HUMANGENOME_JCVI | ss96930423 | Feb 04, 2009 (130) |
17 | BGI | ss106400922 | Feb 04, 2009 (130) |
18 | 1000GENOMES | ss108486789 | Jan 23, 2009 (130) |
19 | 1000GENOMES | ss113580537 | Jan 25, 2009 (130) |
20 | ILLUMINA-UK | ss118611769 | Feb 14, 2009 (130) |
21 | ENSEMBL | ss132346013 | Dec 01, 2009 (131) |
22 | ENSEMBL | ss134068983 | Dec 01, 2009 (131) |
23 | ILLUMINA | ss154407235 | Dec 01, 2009 (131) |
24 | ILLUMINA | ss159582376 | Dec 01, 2009 (131) |
25 | ILLUMINA | ss160851915 | Dec 01, 2009 (131) |
26 | COMPLETE_GENOMICS | ss168371212 | Jul 04, 2010 (132) |
27 | COMPLETE_GENOMICS | ss170031261 | Jul 04, 2010 (132) |
28 | AFFY | ss170212038 | Jul 04, 2010 (132) |
29 | ILLUMINA | ss174258659 | Jul 04, 2010 (132) |
30 | BUSHMAN | ss200307204 | Jul 04, 2010 (132) |
31 | 1000GENOMES | ss226670012 | Jul 14, 2010 (132) |
32 | 1000GENOMES | ss236616671 | Jul 15, 2010 (132) |
33 | 1000GENOMES | ss243036213 | Jul 15, 2010 (132) |
34 | BL | ss255132687 | May 09, 2011 (134) |
35 | GMI | ss282077355 | May 04, 2012 (137) |
36 | GMI | ss286875876 | Apr 25, 2013 (138) |
37 | PJP | ss291636205 | May 09, 2011 (134) |
38 | ILLUMINA | ss410946945 | Sep 17, 2011 (135) |
39 | ILLUMINA | ss481479050 | May 04, 2012 (137) |
40 | ILLUMINA | ss481507310 | May 04, 2012 (137) |
41 | ILLUMINA | ss482485228 | Sep 08, 2015 (146) |
42 | ILLUMINA | ss485534745 | May 04, 2012 (137) |
43 | ILLUMINA | ss537440214 | Sep 08, 2015 (146) |
44 | TISHKOFF | ss564210906 | Apr 25, 2013 (138) |
45 | SSMP | ss659903040 | Apr 25, 2013 (138) |
46 | ILLUMINA | ss778965363 | Sep 08, 2015 (146) |
47 | ILLUMINA | ss783212890 | Sep 08, 2015 (146) |
48 | ILLUMINA | ss784167565 | Sep 08, 2015 (146) |
49 | ILLUMINA | ss832473032 | Sep 08, 2015 (146) |
50 | ILLUMINA | ss833093424 | Jul 13, 2019 (153) |
51 | ILLUMINA | ss834427348 | Sep 08, 2015 (146) |
52 | EVA-GONL | ss991351423 | Aug 21, 2014 (142) |
53 | JMKIDD_LAB | ss1079806826 | Aug 21, 2014 (142) |
54 | 1000GENOMES | ss1351776144 | Aug 21, 2014 (142) |
55 | HAMMER_LAB | ss1397685943 | Sep 08, 2015 (146) |
56 | DDI | ss1427481208 | Apr 01, 2015 (144) |
57 | EVA_GENOME_DK | ss1577374332 | Apr 01, 2015 (144) |
58 | EVA_UK10K_ALSPAC | ss1632153253 | Apr 01, 2015 (144) |
59 | EVA_UK10K_TWINSUK | ss1675147286 | Apr 01, 2015 (144) |
60 | EVA_DECODE | ss1695357831 | Apr 01, 2015 (144) |
61 | EVA_SVP | ss1713459635 | Apr 01, 2015 (144) |
62 | ILLUMINA | ss1752144035 | Sep 08, 2015 (146) |
63 | HAMMER_LAB | ss1808003753 | Sep 08, 2015 (146) |
64 | WEILL_CORNELL_DGM | ss1934722750 | Feb 12, 2016 (147) |
65 | GENOMED | ss1968007184 | Jul 19, 2016 (147) |
66 | JJLAB | ss2028143471 | Sep 14, 2016 (149) |
67 | CSHL | ss2136813759 | Nov 08, 2017 (151) |
68 | USC_VALOUEV | ss2156522115 | Dec 20, 2016 (150) |
69 | HUMAN_LONGEVITY | ss2203582208 | Dec 20, 2016 (150) |
70 | SYSTEMSBIOZJU | ss2628561043 | Nov 08, 2017 (151) |
71 | ILLUMINA | ss2633176491 | Nov 08, 2017 (151) |
72 | GRF | ss2700955254 | Nov 08, 2017 (151) |
73 | ILLUMINA | ss2710805793 | Nov 08, 2017 (151) |
74 | GNOMAD | ss2929893632 | Nov 08, 2017 (151) |
75 | AFFY | ss2985660025 | Nov 08, 2017 (151) |
76 | SWEGEN | ss3012518473 | Nov 08, 2017 (151) |
77 | ILLUMINA | ss3021587278 | Nov 08, 2017 (151) |
78 | BIOINF_KMB_FNS_UNIBA | ss3027897139 | Nov 08, 2017 (151) |
79 | CSHL | ss3350896683 | Nov 08, 2017 (151) |
80 | ILLUMINA | ss3625663554 | Oct 12, 2018 (152) |
81 | ILLUMINA | ss3627265429 | Oct 12, 2018 (152) |
82 | ILLUMINA | ss3631173103 | Oct 12, 2018 (152) |
83 | ILLUMINA | ss3633083091 | Oct 12, 2018 (152) |
84 | ILLUMINA | ss3633786849 | Oct 12, 2018 (152) |
85 | ILLUMINA | ss3634586473 | Oct 12, 2018 (152) |
86 | ILLUMINA | ss3635476183 | Oct 12, 2018 (152) |
87 | ILLUMINA | ss3636275745 | Oct 12, 2018 (152) |
88 | ILLUMINA | ss3637227356 | Oct 12, 2018 (152) |
89 | ILLUMINA | ss3638061997 | Oct 12, 2018 (152) |
90 | ILLUMINA | ss3639044422 | Oct 12, 2018 (152) |
91 | ILLUMINA | ss3639831618 | Oct 12, 2018 (152) |
92 | ILLUMINA | ss3640293800 | Oct 12, 2018 (152) |
93 | ILLUMINA | ss3643047910 | Oct 12, 2018 (152) |
94 | ILLUMINA | ss3643882040 | Oct 12, 2018 (152) |
95 | URBANLAB | ss3650245923 | Oct 12, 2018 (152) |
96 | ILLUMINA | ss3651982334 | Oct 12, 2018 (152) |
97 | EGCUT_WGS | ss3679775423 | Jul 13, 2019 (153) |
98 | EVA_DECODE | ss3697066090 | Jul 13, 2019 (153) |
99 | ILLUMINA | ss3725464583 | Jul 13, 2019 (153) |
100 | ACPOP | ss3740554279 | Jul 13, 2019 (153) |
101 | ILLUMINA | ss3744887087 | Jul 13, 2019 (153) |
102 | EVA | ss3752561866 | Jul 13, 2019 (153) |
103 | ILLUMINA | ss3772385850 | Jul 13, 2019 (153) |
104 | PACBIO | ss3787720287 | Jul 13, 2019 (153) |
105 | PACBIO | ss3792749858 | Jul 13, 2019 (153) |
106 | PACBIO | ss3797634253 | Jul 13, 2019 (153) |
107 | KHV_HUMAN_GENOMES | ss3817887722 | Jul 13, 2019 (153) |
108 | EVA | ss3834019946 | Apr 27, 2020 (154) |
109 | EVA | ss3840600753 | Apr 27, 2020 (154) |
110 | EVA | ss3846090550 | Apr 27, 2020 (154) |
111 | HGDP | ss3847510006 | Apr 27, 2020 (154) |
112 | SGDP_PRJ | ss3881911036 | Apr 27, 2020 (154) |
113 | KRGDB | ss3930974725 | Apr 27, 2020 (154) |
114 | KOGIC | ss3975322988 | Apr 27, 2020 (154) |
115 | EVA | ss3985691893 | Apr 26, 2021 (155) |
116 | EVA | ss4017680723 | Apr 26, 2021 (155) |
117 | TOPMED | ss4977309877 | Apr 26, 2021 (155) |
118 | TOMMO_GENOMICS | ss5214111492 | Apr 26, 2021 (155) |
119 | EVA | ss5237543078 | Apr 26, 2021 (155) |
120 | 1000G_HIGH_COVERAGE | ss5296902219 | Oct 17, 2022 (156) |
121 | GENOGRAPHIC | ss5314562034 | Oct 17, 2022 (156) |
122 | EVA | ss5315752099 | Oct 17, 2022 (156) |
123 | HUGCELL_USP | ss5490880652 | Oct 17, 2022 (156) |
124 | EVA | ss5511310919 | Oct 17, 2022 (156) |
125 | 1000G_HIGH_COVERAGE | ss5597517590 | Oct 17, 2022 (156) |
126 | SANFORD_IMAGENETICS | ss5624349133 | Oct 17, 2022 (156) |
127 | SANFORD_IMAGENETICS | ss5656604284 | Oct 17, 2022 (156) |
128 | TOMMO_GENOMICS | ss5767172457 | Oct 17, 2022 (156) |
129 | EVA | ss5799925636 | Oct 17, 2022 (156) |
130 | YY_MCH | ss5814919931 | Oct 17, 2022 (156) |
131 | EVA | ss5841379087 | Oct 17, 2022 (156) |
132 | EVA | ss5847440849 | Oct 17, 2022 (156) |
133 | EVA | ss5847727845 | Oct 17, 2022 (156) |
134 | EVA | ss5851117711 | Oct 17, 2022 (156) |
135 | EVA | ss5902121619 | Oct 17, 2022 (156) |
136 | EVA | ss5948057151 | Oct 17, 2022 (156) |
137 | EVA | ss5979447155 | Oct 17, 2022 (156) |
138 | 1000Genomes | NC_000014.8 - 79899454 | Oct 12, 2018 (152) |
139 | 1000Genomes_30x | NC_000014.9 - 79433111 | Oct 17, 2022 (156) |
140 | The Avon Longitudinal Study of Parents and Children | NC_000014.8 - 79899454 | Oct 12, 2018 (152) |
141 | Genome-wide autozygosity in Daghestan | NC_000014.7 - 78969207 | Apr 27, 2020 (154) |
142 | Genetic variation in the Estonian population | NC_000014.8 - 79899454 | Oct 12, 2018 (152) |
143 | Genographic Project | NC_000014.9 - 79433111 | Oct 17, 2022 (156) |
144 | The Danish reference pan genome | NC_000014.8 - 79899454 | Apr 27, 2020 (154) |
145 | gnomAD - Genomes | NC_000014.9 - 79433111 | Apr 26, 2021 (155) |
146 | Genome of the Netherlands Release 5 | NC_000014.8 - 79899454 | Apr 27, 2020 (154) |
147 | HGDP-CEPH-db Supplement 1 | NC_000014.7 - 78969207 | Apr 27, 2020 (154) |
148 | HapMap | NC_000014.9 - 79433111 | Apr 27, 2020 (154) |
149 | KOREAN population from KRGDB | NC_000014.8 - 79899454 | Apr 27, 2020 (154) |
150 | Korean Genome Project | NC_000014.9 - 79433111 | Apr 27, 2020 (154) |
151 | Northern Sweden | NC_000014.8 - 79899454 | Jul 13, 2019 (153) |
152 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000014.8 - 79899454 | Apr 26, 2021 (155) |
153 | Qatari | NC_000014.8 - 79899454 | Apr 27, 2020 (154) |
154 | SGDP_PRJ | NC_000014.8 - 79899454 | Apr 27, 2020 (154) |
155 | Siberian | NC_000014.8 - 79899454 | Apr 27, 2020 (154) |
156 | 8.3KJPN | NC_000014.8 - 79899454 | Apr 26, 2021 (155) |
157 | 14KJPN | NC_000014.9 - 79433111 | Oct 17, 2022 (156) |
158 | TopMed | NC_000014.9 - 79433111 | Apr 26, 2021 (155) |
159 | UK 10K study - Twins | NC_000014.8 - 79899454 | Oct 12, 2018 (152) |
160 | A Vietnamese Genetic Variation Database | NC_000014.8 - 79899454 | Jul 13, 2019 (153) |
161 | ALFA | NC_000014.9 - 79433111 | Apr 26, 2021 (155) |
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
Associated ID | History Updated (Build) |
---|---|
rs17836032 | Oct 08, 2004 (123) |
rs56564860 | May 24, 2008 (130) |
rs58384212 | May 24, 2008 (130) |
Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
---|---|---|---|
38152119, ss3930974725 | NC_000014.8:79899453:C:G | NC_000014.9:79433110:C:G | (self) |
156237, 187898, ss66315426, ss75999267, ss90006753, ss108486789, ss113580537, ss118611769, ss168371212, ss170031261, ss170212038, ss200307204, ss255132687, ss282077355, ss286875876, ss291636205, ss481479050, ss1397685943, ss1695357831, ss1713459635, ss2136813759, ss3639044422, ss3639831618, ss3643047910, ss3643882040, ss3847510006 | NC_000014.7:78969206:C:T | NC_000014.9:79433110:C:T | (self) |
64786164, 36004825, 25513671, 3683807, 16076647, 38152119, 13839144, 917820, 16764680, 33928016, 9038469, 72080799, 36004825, 8007485, ss226670012, ss236616671, ss243036213, ss481507310, ss482485228, ss485534745, ss537440214, ss564210906, ss659903040, ss778965363, ss783212890, ss784167565, ss832473032, ss833093424, ss834427348, ss991351423, ss1079806826, ss1351776144, ss1427481208, ss1577374332, ss1632153253, ss1675147286, ss1752144035, ss1808003753, ss1934722750, ss1968007184, ss2028143471, ss2156522115, ss2628561043, ss2633176491, ss2700955254, ss2710805793, ss2929893632, ss2985660025, ss3012518473, ss3021587278, ss3350896683, ss3625663554, ss3627265429, ss3631173103, ss3633083091, ss3633786849, ss3634586473, ss3635476183, ss3636275745, ss3637227356, ss3638061997, ss3640293800, ss3651982334, ss3679775423, ss3740554279, ss3744887087, ss3752561866, ss3772385850, ss3787720287, ss3792749858, ss3797634253, ss3834019946, ss3840600753, ss3881911036, ss3930974725, ss3985691893, ss4017680723, ss5214111492, ss5237543078, ss5315752099, ss5511310919, ss5624349133, ss5656604284, ss5799925636, ss5841379087, ss5847440849, ss5847727845, ss5948057151, ss5979447155 | NC_000014.8:79899453:C:T | NC_000014.9:79433110:C:T | (self) |
85043525, 106885, 456773735, 1183432, 31700989, 101009561, 192855536, 12016791222, ss2203582208, ss3027897139, ss3650245923, ss3697066090, ss3725464583, ss3817887722, ss3846090550, ss3975322988, ss4977309877, ss5296902219, ss5314562034, ss5490880652, ss5597517590, ss5767172457, ss5814919931, ss5851117711, ss5902121619 | NC_000014.9:79433110:C:T | NC_000014.9:79433110:C:T | (self) |
ss10724089, ss16633110 | NT_026437.10:59819494:C:T | NC_000014.9:79433110:C:T | (self) |
ss24604035, ss43661414, ss67545904, ss67919532, ss68270565, ss69163409, ss70910977, ss71508645, ss75674223, ss84622985, ss96930423, ss106400922, ss132346013, ss134068983, ss154407235, ss159582376, ss160851915, ss174258659, ss410946945 | NT_026437.12:60899453:C:T | NC_000014.9:79433110:C:T | (self) |
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
PMID | Title | Author | Year | Journal |
---|---|---|---|---|
26683835 | Physical activity, smoking, and genetic predisposition to obesity in people from Pakistan: the PROMIS study. | Ahmad S et al. | 2015 | BMC medical genetics |
27351487 | Obesity and Multiple Sclerosis: A Mendelian Randomization Study. | Mokry LE et al. | 2016 | PLoS medicine |
32492003 | [The Role of Natural Selection in the Formation of the Genetic Structure of Populations by SNP Markers in Association with Body Mass Index and Obesity]. | Trifonova EA et al. | 2020 | Molekuliarnaia biologiia |
35124268 | Mendelian Randomization Analysis Reveals No Causal Relationship Between Nonalcoholic Fatty Liver Disease and Severe COVID-19. | Li J et al. | 2022 | Clinical gastroenterology and hepatology |
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.