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.
rs601338
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr19:48703417 (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
- G>A
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
A=0.444811 (117737/264690, TOPMED)A=0.382849 (95772/250156, GnomAD_exome)A=0.470890 (67422/143180, ALFA) (+ 21 more)
- Clinical Significance
- Reported in ClinVar
- Gene : Consequence
-
FUT2 : Stop GainedLOC105447645 : Non Coding Transcript Variant
- Publications
- 56 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.
Release Version: 20230706150541
| Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|
| Total | Global | 143274 | G=0.529077 | A=0.470923 |
| European | Sub | 115700 | G=0.519283 | A=0.480717 |
| African | Sub | 9952 | G=0.5043 | A=0.4957 |
| African Others | Sub | 312 | G=0.548 | A=0.452 |
| African American | Sub | 9640 | G=0.5029 | A=0.4971 |
| Asian | Sub | 550 | G=0.998 | A=0.002 |
| East Asian | Sub | 454 | G=1.000 | A=0.000 |
| Other Asian | Sub | 96 | G=0.99 | A=0.01 |
| Latin American 1 | Sub | 946 | G=0.549 | A=0.451 |
| Latin American 2 | Sub | 5016 | G=0.7356 | A=0.2644 |
| South Asian | Sub | 178 | G=0.730 | A=0.270 |
| Other | Sub | 10932 | G=0.53192 | A=0.46808 |
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").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| TopMed | Global | Study-wide | 264690 | G=0.555189 | A=0.444811 |
| gnomAD - Exomes | Global | Study-wide | 250156 | G=0.617151 | A=0.382849 |
| gnomAD - Exomes | European | Sub | 134574 | G=0.540691 | A=0.459309 |
| gnomAD - Exomes | Asian | Sub | 48720 | G=0.80291 | A=0.19709 |
| gnomAD - Exomes | American | Sub | 34566 | G=0.73491 | A=0.26509 |
| gnomAD - Exomes | African | Sub | 16128 | G=0.50229 | A=0.49771 |
| gnomAD - Exomes | Ashkenazi Jewish | Sub | 10056 | G=0.54903 | A=0.45097 |
| gnomAD - Exomes | Other | Sub | 6112 | G=0.5690 | A=0.4310 |
| Allele Frequency Aggregator | Total | Global | 143180 | G=0.529110 | A=0.470890 |
| Allele Frequency Aggregator | European | Sub | 115624 | G=0.519313 | A=0.480687 |
| Allele Frequency Aggregator | Other | Sub | 10914 | G=0.53198 | A=0.46802 |
| Allele Frequency Aggregator | African | Sub | 9952 | G=0.5043 | A=0.4957 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 5016 | G=0.7356 | A=0.2644 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 946 | G=0.549 | A=0.451 |
| Allele Frequency Aggregator | Asian | Sub | 550 | G=0.998 | A=0.002 |
| Allele Frequency Aggregator | South Asian | Sub | 178 | G=0.730 | A=0.270 |
| gnomAD - Genomes | Global | Study-wide | 139914 | G=0.547186 | A=0.452814 |
| gnomAD - Genomes | European | Sub | 75814 | G=0.53878 | A=0.46122 |
| gnomAD - Genomes | African | Sub | 41902 | G=0.50012 | A=0.49988 |
| gnomAD - Genomes | American | Sub | 13602 | G=0.62910 | A=0.37090 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3324 | G=0.5545 | A=0.4455 |
| gnomAD - Genomes | East Asian | Sub | 3124 | G=0.9974 | A=0.0026 |
| gnomAD - Genomes | Other | Sub | 2148 | G=0.5773 | A=0.4227 |
| ExAC | Global | Study-wide | 120132 | G=0.610578 | A=0.389422 |
| ExAC | Europe | Sub | 72466 | G=0.54154 | A=0.45846 |
| ExAC | Asian | Sub | 24986 | G=0.79264 | A=0.20736 |
| ExAC | American | Sub | 11546 | G=0.75204 | A=0.24796 |
| ExAC | African | Sub | 10238 | G=0.49717 | A=0.50283 |
| ExAC | Other | Sub | 896 | G=0.590 | A=0.410 |
| 14KJPN | JAPANESE | Study-wide | 28258 | G=0.99996 | A=0.00004 |
| 1000Genomes_30x | Global | Study-wide | 6404 | G=0.6654 | A=0.3346 |
| 1000Genomes_30x | African | Sub | 1786 | G=0.5028 | A=0.4972 |
| 1000Genomes_30x | Europe | Sub | 1266 | G=0.5482 | A=0.4518 |
| 1000Genomes_30x | South Asian | Sub | 1202 | G=0.7105 | A=0.2895 |
| 1000Genomes_30x | East Asian | Sub | 1170 | G=0.9966 | A=0.0034 |
| 1000Genomes_30x | American | Sub | 980 | G=0.662 | A=0.338 |
| 1000Genomes | Global | Study-wide | 5008 | G=0.6783 | A=0.3217 |
| 1000Genomes | African | Sub | 1322 | G=0.5091 | A=0.4909 |
| 1000Genomes | East Asian | Sub | 1008 | G=0.9960 | A=0.0040 |
| 1000Genomes | Europe | Sub | 1006 | G=0.5586 | A=0.4414 |
| 1000Genomes | South Asian | Sub | 978 | G=0.717 | A=0.283 |
| 1000Genomes | American | Sub | 694 | G=0.659 | A=0.341 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | G=0.6504 | A=0.3496 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | G=0.5008 | A=0.4992 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | G=0.5065 | A=0.4935 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2922 | G=0.9983 | A=0.0017 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | G=0.9995 | A=0.0005 |
| HapMap | Global | Study-wide | 1714 | G=0.6202 | A=0.3798 |
| HapMap | African | Sub | 688 | G=0.551 | A=0.449 |
| HapMap | American | Sub | 598 | G=0.577 | A=0.423 |
| HapMap | Asian | Sub | 252 | G=0.988 | A=0.012 |
| HapMap | Europe | Sub | 176 | G=0.511 | A=0.489 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | G=0.515 | A=0.485 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 792 | G=0.991 | A=0.009 |
| CNV burdens in cranial meningiomas | CRM | Sub | 792 | G=0.991 | A=0.009 |
| Northern Sweden | ACPOP | Study-wide | 600 | G=0.573 | A=0.427 |
| Medical Genome Project healthy controls from Spanish population | Spanish controls | Study-wide | 534 | G=0.507 | A=0.493 |
| FINRISK | Finnish from FINRISK project | Study-wide | 302 | G=0.632 | A=0.368 |
| Qatari | Global | Study-wide | 216 | G=0.528 | A=0.472 |
| SGDP_PRJ | Global | Study-wide | 180 | G=0.378 | A=0.622 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 70 | G=0.49 | A=0.51 |
| The Danish reference pan genome | Danish | Study-wide | 40 | G=0.60 | A=0.40 |
| Siberian | Global | Study-wide | 16 | G=0.44 | A=0.56 |
Help
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.
Genomic Placements
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 19 | NC_000019.10:g.48703417G>A |
| GRCh37.p13 chr 19 | NC_000019.9:g.49206674G>A |
| H blood group RefSeqGene (LRG_811) | NG_007511.1:g.12447G>A |
Gene: FUT2, fucosyltransferase 2
(plus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| FUT2 transcript variant 1 | NM_000511.6:c.461G>A | W [TGG] > * [TAG] | Coding Sequence Variant |
| galactoside alpha-(1,2)-fucosyltransferase 2 | NP_000502.4:p.Trp154Ter | W (Trp) > * (Ter) | Stop Gained |
| FUT2 transcript variant 2 | NM_001097638.3:c.461G>A | W [TGG] > * [TAG] | Coding Sequence Variant |
| galactoside alpha-(1,2)-fucosyltransferase 2 | NP_001091107.1:p.Trp154Ter | W (Trp) > * (Ter) | Stop Gained |
Gene: LOC105447645, uncharacterized LOC105447645
(minus strand)
| Molecule type | Change | Amino acid[Codon] | SO Term |
|---|---|---|---|
| LOC105447645 transcript | NR_131188.1:n.432C>T | N/A | Non Coding Transcript Variant |
Help
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.
Allele: A (allele ID:
27984
)
| ClinVar Accession | Disease Names | Clinical Significance |
|---|---|---|
| RCV000013808.3 | SECRETOR/NONSECRETOR POLYMORPHISM | Benign |
| RCV000013810.3 | Vitamin b12 plasma level quantitative trait locus 1 | Association |
| RCV001291126.1 | Familial Otitis Media | Confers-Sensitivity |
Help
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 | G= | A |
|---|---|---|
| GRCh38.p14 chr 19 | NC_000019.10:g.48703417= | NC_000019.10:g.48703417G>A |
| GRCh37.p13 chr 19 | NC_000019.9:g.49206674= | NC_000019.9:g.49206674G>A |
| H blood group RefSeqGene (LRG_811) | NG_007511.1:g.12447= | NG_007511.1:g.12447G>A |
| FUT2 transcript variant 1 | NM_000511.6:c.461= | NM_000511.6:c.461G>A |
| FUT2 transcript variant 1 | NM_000511.5:c.461= | NM_000511.5:c.461G>A |
| FUT2 transcript variant 2 | NM_001097638.3:c.461= | NM_001097638.3:c.461G>A |
| FUT2 transcript variant 2 | NM_001097638.2:c.461= | NM_001097638.2:c.461G>A |
| LOC105447645 transcript | NR_131188.1:n.432= | NR_131188.1:n.432C>T |
| galactoside alpha-(1,2)-fucosyltransferase 2 | NP_000502.4:p.Trp154= | NP_000502.4:p.Trp154Ter |
| galactoside alpha-(1,2)-fucosyltransferase 2 | NP_001091107.1:p.Trp154= | NP_001091107.1:p.Trp154Ter |
Help
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#.
127 SubSNP,
24 Frequency,
3 ClinVar
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | SC_JCM | ss773312 | Aug 11, 2000 (83) |
| 2 | HGBASE | ss2420086 | Nov 14, 2000 (89) |
| 3 | BCM_SSAHASNP | ss10928315 | Jul 11, 2003 (116) |
| 4 | MGC_GENOME_DIFF | ss28503852 | Sep 24, 2004 (126) |
| 5 | PGA-UW-FHCRC | ss35073461 | May 24, 2005 (125) |
| 6 | APPLERA_GI | ss48410703 | Mar 10, 2006 (126) |
| 7 | ILLUMINA | ss74873064 | Dec 06, 2007 (129) |
| 8 | HGSV | ss78363673 | Dec 06, 2007 (129) |
| 9 | HGSV | ss83737180 | Dec 15, 2007 (130) |
| 10 | HUMANGENOME_JCVI | ss96311254 | Feb 05, 2009 (130) |
| 11 | ILLUMINA | ss120037291 | Dec 01, 2009 (131) |
| 12 | ENSEMBL | ss142819433 | Dec 01, 2009 (131) |
| 13 | SEATTLESEQ | ss159740453 | Dec 01, 2009 (131) |
| 14 | ILLUMINA | ss160757287 | Dec 01, 2009 (131) |
| 15 | COMPLETE_GENOMICS | ss168288683 | Jul 04, 2010 (132) |
| 16 | COMPLETE_GENOMICS | ss169934752 | Jul 04, 2010 (132) |
| 17 | ILLUMINA | ss173962326 | Jul 04, 2010 (132) |
| 18 | BUSHMAN | ss203774497 | Jul 04, 2010 (132) |
| 19 | BCM-HGSC-SUB | ss208431883 | Jul 04, 2010 (132) |
| 20 | OMIM-CURATED-RECORDS | ss275518464 | Dec 08, 2010 (133) |
| 21 | GMI | ss287392942 | Apr 25, 2013 (138) |
| 22 | 1000GENOMES | ss340510728 | May 09, 2011 (134) |
| 23 | NHLBI-ESP | ss342504605 | May 09, 2011 (134) |
| 24 | ILLUMINA | ss481191171 | May 04, 2012 (137) |
| 25 | ILLUMINA | ss481214169 | May 04, 2012 (137) |
| 26 | ILLUMINA | ss482201565 | Sep 08, 2015 (146) |
| 27 | ILLUMINA | ss485390771 | May 04, 2012 (137) |
| 28 | 1000GENOMES | ss491163641 | May 04, 2012 (137) |
| 29 | EXOME_CHIP | ss491550881 | May 04, 2012 (137) |
| 30 | CLINSEQ_SNP | ss491771198 | May 04, 2012 (137) |
| 31 | ILLUMINA | ss537330069 | Sep 08, 2015 (146) |
| 32 | TISHKOFF | ss566025787 | Apr 25, 2013 (138) |
| 33 | SSMP | ss661892333 | Apr 25, 2013 (138) |
| 34 | ILLUMINA | ss778934388 | Sep 08, 2015 (146) |
| 35 | ILLUMINA | ss783140926 | Sep 08, 2015 (146) |
| 36 | ILLUMINA | ss832400007 | Sep 08, 2015 (146) |
| 37 | ILLUMINA | ss834396032 | Sep 08, 2015 (146) |
| 38 | EVA-GONL | ss994368268 | Aug 21, 2014 (142) |
| 39 | JMKIDD_LAB | ss1067591757 | Aug 21, 2014 (142) |
| 40 | JMKIDD_LAB | ss1081949817 | Aug 21, 2014 (142) |
| 41 | 1000GENOMES | ss1363441125 | Aug 21, 2014 (142) |
| 42 | DDI | ss1428422091 | Apr 01, 2015 (144) |
| 43 | EVA_GENOME_DK | ss1578665209 | Apr 01, 2015 (144) |
| 44 | EVA_FINRISK | ss1584118890 | Apr 01, 2015 (144) |
| 45 | EVA_UK10K_ALSPAC | ss1638097187 | Apr 01, 2015 (144) |
| 46 | EVA_UK10K_TWINSUK | ss1681091220 | Apr 01, 2015 (144) |
| 47 | EVA_EXAC | ss1693712127 | Apr 01, 2015 (144) |
| 48 | EVA_DECODE | ss1698423512 | Apr 01, 2015 (144) |
| 49 | EVA_MGP | ss1711519907 | Apr 01, 2015 (144) |
| 50 | EVA_SVP | ss1713666674 | Apr 01, 2015 (144) |
| 51 | ILLUMINA | ss1752290446 | Sep 08, 2015 (146) |
| 52 | HAMMER_LAB | ss1809339398 | Sep 08, 2015 (146) |
| 53 | WEILL_CORNELL_DGM | ss1937867734 | Feb 12, 2016 (147) |
| 54 | ILLUMINA | ss1959874018 | Feb 12, 2016 (147) |
| 55 | GENOMED | ss1968655343 | Jul 19, 2016 (147) |
| 56 | JJLAB | ss2029709712 | Sep 14, 2016 (149) |
| 57 | ILLUMINA | ss2094804212 | Dec 20, 2016 (150) |
| 58 | ILLUMINA | ss2095085732 | Dec 20, 2016 (150) |
| 59 | USC_VALOUEV | ss2158256457 | Dec 20, 2016 (150) |
| 60 | HUMAN_LONGEVITY | ss2226246036 | Dec 20, 2016 (150) |
| 61 | ILLUMINA | ss2633547842 | Nov 08, 2017 (151) |
| 62 | GNOMAD | ss2744167460 | Nov 08, 2017 (151) |
| 63 | GNOMAD | ss2750243166 | Nov 08, 2017 (151) |
| 64 | GNOMAD | ss2963673685 | Nov 08, 2017 (151) |
| 65 | AFFY | ss2985147568 | Nov 08, 2017 (151) |
| 66 | SWEGEN | ss3017592891 | Nov 08, 2017 (151) |
| 67 | ILLUMINA | ss3021916009 | Nov 08, 2017 (151) |
| 68 | EVA_SAMSUNG_MC | ss3023072332 | Nov 08, 2017 (151) |
| 69 | BIOINF_KMB_FNS_UNIBA | ss3028685358 | Nov 08, 2017 (151) |
| 70 | CSHL | ss3352334581 | Nov 08, 2017 (151) |
| 71 | ILLUMINA | ss3627948666 | Oct 12, 2018 (152) |
| 72 | ILLUMINA | ss3631518514 | Oct 12, 2018 (152) |
| 73 | ILLUMINA | ss3633893107 | Oct 12, 2018 (152) |
| 74 | ILLUMINA | ss3634740161 | Oct 12, 2018 (152) |
| 75 | ILLUMINA | ss3635579819 | Oct 12, 2018 (152) |
| 76 | ILLUMINA | ss3636426879 | Oct 12, 2018 (152) |
| 77 | ILLUMINA | ss3637331581 | Oct 12, 2018 (152) |
| 78 | ILLUMINA | ss3638232011 | Oct 12, 2018 (152) |
| 79 | ILLUMINA | ss3640447469 | Oct 12, 2018 (152) |
| 80 | ILLUMINA | ss3643204322 | Oct 12, 2018 (152) |
| 81 | OMUKHERJEE_ADBS | ss3646539535 | Oct 12, 2018 (152) |
| 82 | URBANLAB | ss3650931780 | Oct 12, 2018 (152) |
| 83 | ILLUMINA | ss3652342577 | Oct 12, 2018 (152) |
| 84 | ILLUMINA | ss3653919366 | Oct 12, 2018 (152) |
| 85 | EGCUT_WGS | ss3684333682 | Jul 13, 2019 (153) |
| 86 | EVA_DECODE | ss3702906857 | Jul 13, 2019 (153) |
| 87 | ILLUMINA | ss3725737161 | Jul 13, 2019 (153) |
| 88 | ACPOP | ss3743098968 | Jul 13, 2019 (153) |
| 89 | EVA | ss3756145345 | Jul 13, 2019 (153) |
| 90 | PACBIO | ss3788550547 | Jul 13, 2019 (153) |
| 91 | PACBIO | ss3793457223 | Jul 13, 2019 (153) |
| 92 | PACBIO | ss3798344103 | Jul 13, 2019 (153) |
| 93 | KHV_HUMAN_GENOMES | ss3821393856 | Jul 13, 2019 (153) |
| 94 | EVA | ss3825310790 | Apr 27, 2020 (154) |
| 95 | EVA | ss3825533104 | Apr 27, 2020 (154) |
| 96 | EVA | ss3835496835 | Apr 27, 2020 (154) |
| 97 | EVA | ss3841371129 | Apr 27, 2020 (154) |
| 98 | EVA | ss3846877399 | Apr 27, 2020 (154) |
| 99 | SGDP_PRJ | ss3888370206 | Apr 27, 2020 (154) |
| 100 | KRGDB | ss3938513926 | Apr 27, 2020 (154) |
| 101 | KOGIC | ss3981508524 | Apr 27, 2020 (154) |
| 102 | FSA-LAB | ss3984159000 | Apr 26, 2021 (155) |
| 103 | EVA | ss3984743424 | Apr 26, 2021 (155) |
| 104 | EVA | ss3985857509 | Apr 26, 2021 (155) |
| 105 | EVA | ss3986806324 | Apr 26, 2021 (155) |
| 106 | EVA | ss4017828491 | Apr 26, 2021 (155) |
| 107 | TOPMED | ss5077133890 | Apr 26, 2021 (155) |
| 108 | EVA | ss5236963805 | Apr 26, 2021 (155) |
| 109 | EVA | ss5237248444 | Apr 26, 2021 (155) |
| 110 | EVA | ss5237673162 | Oct 13, 2022 (156) |
| 111 | 1000G_HIGH_COVERAGE | ss5307506697 | Oct 13, 2022 (156) |
| 112 | TRAN_CS_UWATERLOO | ss5314453998 | Oct 13, 2022 (156) |
| 113 | EVA | ss5435272494 | Oct 13, 2022 (156) |
| 114 | HUGCELL_USP | ss5499985780 | Oct 13, 2022 (156) |
| 115 | EVA | ss5512119273 | Oct 13, 2022 (156) |
| 116 | 1000G_HIGH_COVERAGE | ss5613345758 | Oct 13, 2022 (156) |
| 117 | EVA | ss5623978670 | Oct 13, 2022 (156) |
| 118 | EVA | ss5624092487 | Oct 13, 2022 (156) |
| 119 | SANFORD_IMAGENETICS | ss5624430617 | Oct 13, 2022 (156) |
| 120 | SANFORD_IMAGENETICS | ss5662534688 | Oct 13, 2022 (156) |
| 121 | TOMMO_GENOMICS | ss5786846132 | Oct 13, 2022 (156) |
| 122 | EVA | ss5800073646 | Oct 13, 2022 (156) |
| 123 | EVA | ss5800224620 | Oct 13, 2022 (156) |
| 124 | EVA | ss5840647945 | Oct 13, 2022 (156) |
| 125 | EVA | ss5848497956 | Oct 13, 2022 (156) |
| 126 | EVA | ss5928371381 | Oct 13, 2022 (156) |
| 127 | EVA | ss5953942522 | Oct 13, 2022 (156) |
| 128 | 1000Genomes | NC_000019.9 - 49206674 | Oct 12, 2018 (152) |
| 129 | 1000Genomes_30x | NC_000019.10 - 48703417 | Oct 13, 2022 (156) |
| 130 | The Avon Longitudinal Study of Parents and Children | NC_000019.9 - 49206674 | Oct 12, 2018 (152) |
| 131 | Genetic variation in the Estonian population | NC_000019.9 - 49206674 | Oct 12, 2018 (152) |
| 132 | ExAC | NC_000019.9 - 49206674 | Oct 12, 2018 (152) |
| 133 | FINRISK | NC_000019.9 - 49206674 | Apr 27, 2020 (154) |
| 134 | The Danish reference pan genome | NC_000019.9 - 49206674 | Apr 27, 2020 (154) |
| 135 | gnomAD - Genomes | NC_000019.10 - 48703417 | Apr 26, 2021 (155) |
| 136 | gnomAD - Exomes | NC_000019.9 - 49206674 | Jul 13, 2019 (153) |
| 137 | Genome of the Netherlands Release 5 | NC_000019.9 - 49206674 | Apr 27, 2020 (154) |
| 138 | HapMap | NC_000019.10 - 48703417 | Apr 27, 2020 (154) |
| 139 | KOREAN population from KRGDB | NC_000019.9 - 49206674 | Apr 27, 2020 (154) |
| 140 | Korean Genome Project | NC_000019.10 - 48703417 | Apr 27, 2020 (154) |
| 141 | Medical Genome Project healthy controls from Spanish population | NC_000019.9 - 49206674 | Apr 27, 2020 (154) |
| 142 | Northern Sweden | NC_000019.9 - 49206674 | Jul 13, 2019 (153) |
| 143 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000019.9 - 49206674 | Apr 26, 2021 (155) |
| 144 | CNV burdens in cranial meningiomas | NC_000019.9 - 49206674 | Apr 26, 2021 (155) |
| 145 | Qatari | NC_000019.9 - 49206674 | Apr 27, 2020 (154) |
| 146 | SGDP_PRJ | NC_000019.9 - 49206674 | Apr 27, 2020 (154) |
| 147 | Siberian | NC_000019.9 - 49206674 | Apr 27, 2020 (154) |
| 148 | 14KJPN | NC_000019.10 - 48703417 | Oct 13, 2022 (156) |
| 149 | TopMed | NC_000019.10 - 48703417 | Apr 26, 2021 (155) |
| 150 | UK 10K study - Twins | NC_000019.9 - 49206674 | Oct 12, 2018 (152) |
| 151 | ALFA | NC_000019.10 - 48703417 | Apr 26, 2021 (155) |
| 152 | ClinVar | RCV000013808.3 | Oct 12, 2018 (152) |
| 153 | ClinVar | RCV000013810.3 | Oct 12, 2018 (152) |
| 154 | ClinVar | RCV001291126.1 | Apr 26, 2021 (155) |
Help
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) |
|---|---|
| rs17849550 | Mar 10, 2006 (126) |
| rs58899004 | May 25, 2008 (130) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| ss78363673, ss83737180, ss168288683, ss169934752, ss203774497, ss208431883, ss287392942, ss481191171, ss491771198, ss1698423512, ss1713666674, ss3643204322 | NC_000019.8:53898485:G:A | NC_000019.10:48703416:G:A | (self) |
| 76858202, 42554578, 30071930, 4224333, 115351, 4846746, 13480980, 18956862, 45691320, 635667, 16383833, 1083436, 292986, 19909656, 40387186, 10772811, 42554578, ss340510728, ss342504605, ss481214169, ss482201565, ss485390771, ss491163641, ss491550881, ss537330069, ss566025787, ss661892333, ss778934388, ss783140926, ss832400007, ss834396032, ss994368268, ss1067591757, ss1081949817, ss1363441125, ss1428422091, ss1578665209, ss1584118890, ss1638097187, ss1681091220, ss1693712127, ss1711519907, ss1752290446, ss1809339398, ss1937867734, ss1959874018, ss1968655343, ss2029709712, ss2094804212, ss2095085732, ss2158256457, ss2633547842, ss2744167460, ss2750243166, ss2963673685, ss2985147568, ss3017592891, ss3021916009, ss3023072332, ss3352334581, ss3627948666, ss3631518514, ss3633893107, ss3634740161, ss3635579819, ss3636426879, ss3637331581, ss3638232011, ss3640447469, ss3646539535, ss3652342577, ss3653919366, ss3684333682, ss3743098968, ss3756145345, ss3788550547, ss3793457223, ss3798344103, ss3825310790, ss3825533104, ss3835496835, ss3841371129, ss3888370206, ss3938513926, ss3984159000, ss3984743424, ss3985857509, ss3986806324, ss4017828491, ss5435272494, ss5512119273, ss5623978670, ss5624092487, ss5624430617, ss5662534688, ss5800073646, ss5800224620, ss5840647945, ss5848497956, ss5953942522 | NC_000019.9:49206673:G:A | NC_000019.10:48703416:G:A | (self) |
| RCV000013808.3, RCV000013810.3, RCV001291126.1, 100871693, 542052041, 1705643, 37886525, 120683236, 292679554, 1256276852, ss275518464, ss2226246036, ss3028685358, ss3650931780, ss3702906857, ss3725737161, ss3821393856, ss3846877399, ss3981508524, ss5077133890, ss5236963805, ss5237248444, ss5237673162, ss5307506697, ss5314453998, ss5499985780, ss5613345758, ss5786846132, ss5928371381 | NC_000019.10:48703416:G:A | NC_000019.10:48703416:G:A | (self) |
| ss10928315 | NT_011109.15:21474863:G:A | NC_000019.10:48703416:G:A | (self) |
| ss773312, ss2420086, ss28503852, ss35073461, ss48410703, ss74873064, ss96311254, ss120037291, ss142819433, ss159740453, ss160757287, ss173962326 | NT_011109.16:21474891:G:A | NC_000019.10:48703416:G:A | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
56
citations for rs601338
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 7876234 | Molecular cloning of a human genomic region containing the H blood group alpha(1,2)fucosyltransferase gene and two H locus-related DNA restriction fragments. Isolation of a candidate for the human Secretor blood group locus. | Rouquier S et al. | 1995 | The Journal of biological chemistry |
| 7876235 | Sequence and expression of a candidate for the human Secretor blood group alpha(1,2)fucosyltransferase gene (FUT2). Homozygosity for an enzyme-inactivating nonsense mutation commonly correlates with the non-secretor phenotype. | Kelly RJ et al. | 1995 | The Journal of biological chemistry |
| 12692541 | Human susceptibility and resistance to Norwalk virus infection. | Lindesmith L et al. | 2003 | Nature medicine |
| 18604267 | Novel association of ABO histo-blood group antigen with soluble ICAM-1: results of a genome-wide association study of 6,578 women. | Paré G et al. | 2008 | PLoS genetics |
| 18776911 | Common variants of FUT2 are associated with plasma vitamin B12 levels. | Hazra A et al. | 2008 | Nature genetics |
| 19169360 | Histo-blood group gene polymorphisms as potential genetic modifiers of infection and cystic fibrosis lung disease severity. | Taylor-Cousar JL et al. | 2009 | PloS one |
| 19379518 | Development of a fingerprinting panel using medically relevant polymorphisms. | Cross DS et al. | 2009 | BMC medical genomics |
| 19474294 | Potential etiologic and functional implications of genome-wide association loci for human diseases and traits. | Hindorff LA et al. | 2009 | Proceedings of the National Academy of Sciences of the United States of America |
| 19744961 | Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway. | Hazra A et al. | 2009 | Human molecular genetics |
| 20041166 | Common genetic variation and the control of HIV-1 in humans. | Fellay J et al. | 2009 | PLoS genetics |
| 20565774 | Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project. | Cross DS et al. | 2010 | BMC genetics |
| 20570966 | Fucosyltransferase 2 (FUT2) non-secretor status is associated with Crohn's disease. | McGovern DP et al. | 2010 | Human molecular genetics |
| 20574445 | A non-synonymous SNP within membrane metalloendopeptidase-like 1 (MMEL1) is associated with multiple sclerosis. | Ban M et al. | 2010 | Genes and immunity |
| 20971884 | Variant ABO blood group alleles, secretor status, and risk of pancreatic cancer: results from the pancreatic cancer cohort consortium. | Wolpin BM et al. | 2010 | Cancer epidemiology, biomarkers & prevention |
| 21102463 | Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. | Franke A et al. | 2010 | Nature genetics |
| 21507254 | Geographic differences in allele frequencies of susceptibility SNPs for cardiovascular disease. | Ding K et al. | 2011 | BMC medical genetics |
| 21829393 | Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases. | Plagnol V et al. | 2011 | PLoS genetics |
| 22024213 | A novel gene-environment interaction involved in endometriosis. | McCarty CA et al. | 2012 | International journal of gynaecology and obstetrics |
| 22025780 | FUT2 nonsecretor status links type 1 diabetes susceptibility and resistance to infection. | Smyth DJ et al. | 2011 | Diabetes |
| 22199995 | The causal roles of vitamin B(12) and transcobalamin in prostate cancer: can Mendelian randomization analysis provide definitive answers? | Collin SM et al. | 2011 | International journal of molecular epidemiology and genetics |
| 22521342 | Extended analysis of a genome-wide association study in primary sclerosing cholangitis detects multiple novel risk loci. | Folseraas T et al. | 2012 | Journal of hepatology |
| 23075394 | Association study of FUT2 (rs601338) with celiac disease and inflammatory bowel disease in the Finnish population. | Parmar AS et al. | 2012 | Tissue antigens |
| 23227234 | Vitamin B-12 status during pregnancy and child's IQ at age 8: a Mendelian randomization study in the Avon longitudinal study of parents and children. | Bonilla C et al. | 2012 | PloS one |
| 23402911 | Gastric intrinsic factor deficiency with combined GIF heterozygous mutations and FUT2 secretor variant. | Chery C et al. | 2013 | Biochimie |
| 24326010 | FUT2: filling the gap between genes and environment in Behçet's disease? | Xavier JM et al. | 2015 | Annals of the rheumatic diseases |
| 24463784 | Variants in host viral replication cycle genes are associated with heterosexual HIV-1 acquisition in Africans. | Bigham AW et al. | 2014 | Journal of acquired immune deficiency syndromes (1999) |
| 24612312 | Fut2 genotype is a risk factor for dominant stenosis and biliary candida infections in primary sclerosing cholangitis. | Rupp C et al. | 2014 | Alimentary pharmacology & therapeutics |
| 24733310 | Faecal microbiota composition in adults is associated with the FUT2 gene determining the secretor status. | Wacklin P et al. | 2014 | PloS one |
| 25642664 | FUT 2 polymorphism and outcome in very-low-birth-weight infants. | Demmert M et al. | 2015 | Pediatric research |
| 26454189 | Association of elevated rotavirus-specific antibody titers with HBGA secretor status in Swedish individuals: The FUT2 gene as a putative susceptibility determinant for infection. | Günaydın G et al. | 2016 | Virus research |
| 26646561 | Combinations of FUT2 gene polymorphisms and environmental factors are associated with oral cancer risk. | Su KJ et al. | 2016 | Tumour biology |
| 26766790 | Association of Ulcerative Colitis with FUT2 and FUT3 Polymorphisms in Patients from Southeast China. | Hu D et al. | 2016 | PloS one |
| 26966527 | A common genetic variant of fucosyltransferase 2 correlates with serum carcinoembryonic antigen levels and affects cancer screening in patients with primary sclerosing cholangitis. | Wannhoff A et al. | 2016 | United European gastroenterology journal |
| 27303667 | Genetic Influences on the Development of Fibrosis in Crohn's Disease. | Verstockt B et al. | 2016 | Frontiers in medicine |
| 27507062 | Fine-mapping analysis revealed complex pleiotropic effect and tissue-specific regulatory mechanism of TNFSF15 in primary biliary cholangitis, Crohn's disease and leprosy. | Sun Y et al. | 2016 | Scientific reports |
| 27535653 | eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for stop-gain variants. | Verma A et al. | 2016 | BMC medical genomics |
| 27871240 | ABO antigen and secretor statuses are not associated with gut microbiota composition in 1,500 twins. | Davenport ER et al. | 2016 | BMC genomics |
| 28334792 | GWAS identifies population-specific new regulatory variants in FUT6 associated with plasma B12 concentrations in Indians. | Nongmaithem SS et al. | 2017 | Human molecular genetics |
| 28742214 | Association of combined GIF290T>C heterozygous mutation/FUT2 secretor variant with neural tube defects. | Guéant-Rodriguez RM et al. | 2018 | Clinical genetics |
| 28824326 | FUT2 genetic variants as predictors of tumor development with hepatocellular carcinoma. | Chen CT et al. | 2017 | International journal of medical sciences |
| 28878367 | FUT2 non-secretor status is associated with altered susceptibility to symptomatic enterotoxigenic Escherichia coli infection in Bangladeshis. | Mottram L et al. | 2017 | Scientific reports |
| 29040465 | The FUT2 secretor variant p.Trp154Ter influences serum vitamin B12 concentration via holo-haptocorrin, but not holo-transcobalamin, and is associated with haptocorrin glycosylation. | Velkova A et al. | 2017 | Human molecular genetics |
| 29533703 | FUT2 genotype and secretory status are not associated with fecal microbial composition and inferred function in healthy subjects. | Turpin W et al. | 2018 | Gut microbes |
| 29912471 | The First Norovirus Longitudinal Seroepidemiological Study From Sub-Saharan Africa Reveals High Seroprevalence of Diverse Genotypes Associated With Host Susceptibility Factors. | Thorne L et al. | 2018 | The Journal of infectious diseases |
| 30345375 | FUT2 secretor genotype and susceptibility to infections and chronic conditions in the ALSPAC cohort. | Azad MB et al. | 2018 | Wellcome open research |
| 30376117 | FUT2 Genetic Variants and Reported Respiratory and Gastrointestinal Illnesses During Infancy. | Barton SJ et al. | 2019 | The Journal of infectious diseases |
| 30615603 | Association of Fucosyltransferase 2 Gene Variant with Inflammatory Bowel Diseases: A Meta-Analysis. | Zhou F et al. | 2019 | Medical science monitor |
| 31591105 | Longitudinal Pattern of First-Phase Insulin Response Is Associated With Genetic Variants Outside the Class II HLA Region in Children With Multiple Autoantibodies. | Koskinen MK et al. | 2020 | Diabetes |
| 31666285 | Common and Rare Sequence Variants Influencing Tumor Biomarkers in Blood. | Olafsson S et al. | 2020 | Cancer epidemiology, biomarkers & prevention |
| 32872099 | Can the FUT 2 Gene Variant Have an Effect on the Body Weight of Patients Undergoing Bariatric Surgery?-Preliminary, Exploratory Study. | Komorniak N et al. | 2020 | Nutrients |
| 33195368 | Time of Lactation and Maternal Fucosyltransferase Genetic Polymorphisms Determine the Variability in Human Milk Oligosaccharides. | Lefebvre G et al. | 2020 | Frontiers in nutrition |
| 33667483 | Estimation of secretor status of ABO antigens by high-resolution melting analysis of rs601338 (428G > A). | Soejima M et al. | 2021 | Clinica chimica acta; international journal of clinical chemistry |
| 33852451 | Development and Validation of a Clinical-Genetic Risk Score to Predict Hepatic Encephalopathy in Patients With Liver Cirrhosis. | Gil-Gómez A et al. | 2021 | The American journal of gastroenterology |
| 34159422 | Host genetic control of gut microbiome composition. | Bubier JA et al. | 2021 | Mammalian genome |
| 34739405 | Fucosyltransferase 2 Mutations Are Associated With a Favorable Clinical Course in Crohn's Disease. | Battat R et al. | 2022 | Journal of clinical gastroenterology |
| 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 |
Help
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
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.