Name: rs72770483
Published: September 21, 2022
License: Open Access

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.

rs72770483

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr16:24914993 (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: T>C / T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.01370 (387/28258, 14KJPN)
G=0.02305 (403/17482, ALFA)
G=0.01372 (230/16760, 8.3KJPN) (+ 14 more)
G=0.0383 (245/6404, 1000G_30x)
G=0.0365 (183/5008, 1000G)
G=0.0848 (380/4480, Estonian)
G=0.0651 (251/3854, ALSPAC)
G=0.0690 (256/3708, TWINSUK)
G=0.0003 (1/2922, KOREAN)
G=0.0011 (2/1832, Korea1K)
G=0.068 (68/998, GoNL)
G=0.042 (25/600, NorthernSweden)
G=0.093 (20/216, Qatari)
T=0.48 (30/62, SGDP_PRJ)
G=0.07 (3/40, GENOME_DK)
T=0.5 (1/2, Siberian)
G=0.5 (1/2, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: None
Publications: 0 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	17482	T=0.97695	C=0.00000, G=0.02305
European	Sub	13140	T=0.97040	C=0.00000, G=0.02960
African	Sub	2884	T=0.9993	C=0.0000, G=0.0007
African Others	Sub	112	T=1.000	C=0.000, G=0.000
African American	Sub	2772	T=0.9993	C=0.0000, G=0.0007
Asian	Sub	112	T=1.000	C=0.000, G=0.000
East Asian	Sub	86	T=1.00	C=0.00, G=0.00
Other Asian	Sub	26	T=1.00	C=0.00, G=0.00
Latin American 1	Sub	122	T=1.000	C=0.000, G=0.000
Latin American 2	Sub	496	T=1.000	C=0.000, G=0.000
South Asian	Sub	78	T=1.00	C=0.00, G=0.00
Other	Sub	650	T=0.982	C=0.000, G=0.018

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
14KJPN	JAPANESE	Study-wide	28258	T=0.98630	G=0.01370
Allele Frequency Aggregator	Total	Global	17482	T=0.97695	C=0.00000, G=0.02305
Allele Frequency Aggregator	European	Sub	13140	T=0.97040	C=0.00000, G=0.02960
Allele Frequency Aggregator	African	Sub	2884	T=0.9993	C=0.0000, G=0.0007
Allele Frequency Aggregator	Other	Sub	650	T=0.982	C=0.000, G=0.018
Allele Frequency Aggregator	Latin American 2	Sub	496	T=1.000	C=0.000, G=0.000
Allele Frequency Aggregator	Latin American 1	Sub	122	T=1.000	C=0.000, G=0.000
Allele Frequency Aggregator	Asian	Sub	112	T=1.000	C=0.000, G=0.000
Allele Frequency Aggregator	South Asian	Sub	78	T=1.00	C=0.00, G=0.00
8.3KJPN	JAPANESE	Study-wide	16760	T=0.98628	G=0.01372
1000Genomes_30x	Global	Study-wide	6404	T=0.9617	G=0.0383
1000Genomes_30x	African	Sub	1786	T=0.9983	G=0.0017
1000Genomes_30x	Europe	Sub	1266	T=0.9115	G=0.0885
1000Genomes_30x	South Asian	Sub	1202	T=0.9651	G=0.0349
1000Genomes_30x	East Asian	Sub	1170	T=0.9983	G=0.0017
1000Genomes_30x	American	Sub	980	T=0.912	G=0.088
1000Genomes	Global	Study-wide	5008	T=0.9635	G=0.0365
1000Genomes	African	Sub	1322	T=0.9977	G=0.0023
1000Genomes	East Asian	Sub	1008	T=0.9980	G=0.0020
1000Genomes	Europe	Sub	1006	T=0.9115	G=0.0885
1000Genomes	South Asian	Sub	978	T=0.966	G=0.034
1000Genomes	American	Sub	694	T=0.919	G=0.081
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.9152	G=0.0848
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.9349	G=0.0651
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.9310	G=0.0690
KOREAN population from KRGDB	KOREAN	Study-wide	2922	T=0.9997	G=0.0003
Korean Genome Project	KOREAN	Study-wide	1832	T=0.9989	G=0.0011
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.932	G=0.068
Northern Sweden	ACPOP	Study-wide	600	T=0.958	G=0.042
Qatari	Global	Study-wide	216	T=0.907	G=0.093
SGDP_PRJ	Global	Study-wide	62	T=0.48	G=0.52
The Danish reference pan genome	Danish	Study-wide	40	T=0.93	G=0.07
Siberian	Global	Study-wide	2	T=0.5	G=0.5

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 16	NC_000016.10:g.24914993T>C
GRCh38.p14 chr 16	NC_000016.10:g.24914993T>G
GRCh37.p13 chr 16	NC_000016.9:g.24926314T>C
GRCh37.p13 chr 16	NC_000016.9:g.24926314T>G
GRCh38.p14 chr 16 fix patch HG2471_PATCH	NW_021160019.1:g.168476T>C
GRCh38.p14 chr 16 fix patch HG2471_PATCH	NW_021160019.1:g.168476T>G

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.

Not Reported in ClinVar

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	T=	C	G
GRCh38.p14 chr 16	NC_000016.10:g.24914993=	NC_000016.10:g.24914993T>C	NC_000016.10:g.24914993T>G
GRCh37.p13 chr 16	NC_000016.9:g.24926314=	NC_000016.9:g.24926314T>C	NC_000016.9:g.24926314T>G
GRCh38.p14 chr 16 fix patch HG2471_PATCH	NW_021160019.1:g.168476=	NW_021160019.1:g.168476T>C	NW_021160019.1:g.168476T>G

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#.

43 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	1000GENOMES	ss109270167	Feb 13, 2009 (130)
2	COMPLETE_GENOMICS	ss171116097	Jul 04, 2010 (132)
3	1000GENOMES	ss236991947	Jul 15, 2010 (132)
4	SSMP	ss660598800	Apr 25, 2013 (138)
5	EVA-GONL	ss992392793	Aug 21, 2014 (142)
6	JMKIDD_LAB	ss1080562632	Aug 21, 2014 (142)
7	1000GENOMES	ss1355815874	Aug 21, 2014 (142)
8	DDI	ss1427811207	Apr 01, 2015 (144)
9	EVA_GENOME_DK	ss1577879899	Apr 01, 2015 (144)
10	EVA_UK10K_ALSPAC	ss1634226047	Apr 01, 2015 (144)
11	EVA_UK10K_TWINSUK	ss1677220080	Apr 01, 2015 (144)
12	EVA_DECODE	ss1696427096	Apr 01, 2015 (144)
13	WEILL_CORNELL_DGM	ss1935815548	Feb 12, 2016 (147)
14	JJLAB	ss2028695286	Sep 14, 2016 (149)
15	USC_VALOUEV	ss2157106984	Dec 20, 2016 (150)
16	HUMAN_LONGEVITY	ss2211432586	Dec 20, 2016 (150)
17	GNOMAD	ss2941617975	Nov 08, 2017 (151)
18	SWEGEN	ss3014262251	Nov 08, 2017 (151)
19	BIOINF_KMB_FNS_UNIBA	ss3028170974	Nov 08, 2017 (151)
20	CSHL	ss3351389947	Nov 08, 2017 (151)
21	EGCUT_WGS	ss3681349424	Jul 13, 2019 (153)
22	EVA_DECODE	ss3699055580	Jul 13, 2019 (153)
23	ACPOP	ss3741431397	Jul 13, 2019 (153)
24	EVA	ss3753815619	Jul 13, 2019 (153)
25	KHV_HUMAN_GENOMES	ss3819110007	Jul 13, 2019 (153)
26	EVA	ss3834527621	Apr 27, 2020 (154)
27	EVA	ss3840870552	Apr 27, 2020 (154)
28	EVA	ss3846361489	Apr 27, 2020 (154)
29	SGDP_PRJ	ss3884193972	Apr 27, 2020 (154)
30	KRGDB	ss3933529338	Apr 27, 2020 (154)
31	KOGIC	ss3977315287	Apr 27, 2020 (154)
32	TOPMED	ss5011435354	Apr 27, 2021 (155)
33	TOPMED	ss5011435355	Apr 27, 2021 (155)
34	TOMMO_GENOMICS	ss5218978387	Apr 27, 2021 (155)
35	1000G_HIGH_COVERAGE	ss5300537837	Oct 17, 2022 (156)
36	EVA	ss5423009832	Oct 17, 2022 (156)
37	HUGCELL_USP	ss5493988595	Oct 17, 2022 (156)
38	1000G_HIGH_COVERAGE	ss5602956225	Oct 17, 2022 (156)
39	SANFORD_IMAGENETICS	ss5658687083	Oct 17, 2022 (156)
40	TOMMO_GENOMICS	ss5773620230	Oct 17, 2022 (156)
41	EVA	ss5846258001	Oct 17, 2022 (156)
42	EVA	ss5898693802	Oct 17, 2022 (156)
43	EVA	ss5950105980	Oct 17, 2022 (156)
44	1000Genomes	NC_000016.9 - 24926314	Oct 12, 2018 (152)
45	1000Genomes_30x	NC_000016.10 - 24914993	Oct 17, 2022 (156)
46	The Avon Longitudinal Study of Parents and Children	NC_000016.9 - 24926314	Oct 12, 2018 (152)
47	Genetic variation in the Estonian population	NC_000016.9 - 24926314	Oct 12, 2018 (152)
48	The Danish reference pan genome	NC_000016.9 - 24926314	Apr 27, 2020 (154)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 486076487 (NC_000016.10:24914992:T:C 1/140214) Row 486076488 (NC_000016.10:24914992:T:G 7804/140196)	-	Apr 27, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 486076487 (NC_000016.10:24914992:T:C 1/140214) Row 486076488 (NC_000016.10:24914992:T:G 7804/140196)	-	Apr 27, 2021 (155)
51	Genome of the Netherlands Release 5	NC_000016.9 - 24926314	Apr 27, 2020 (154)
52	KOREAN population from KRGDB	NC_000016.9 - 24926314	Apr 27, 2020 (154)
53	Korean Genome Project	NC_000016.10 - 24914993	Apr 27, 2020 (154)
54	Northern Sweden	NC_000016.9 - 24926314	Jul 13, 2019 (153)
55	Qatari	NC_000016.9 - 24926314	Apr 27, 2020 (154)
56	SGDP_PRJ	NC_000016.9 - 24926314	Apr 27, 2020 (154)
57	Siberian	NC_000016.9 - 24926314	Apr 27, 2020 (154)
58	8.3KJPN	NC_000016.9 - 24926314	Apr 27, 2021 (155)
59	14KJPN	NC_000016.10 - 24914993	Oct 17, 2022 (156)
60	TopMed Submission ignored due to conflicting rows: Row 226981015 (NC_000016.10:24914992:T:C 1/264690) Row 226981016 (NC_000016.10:24914992:T:G 14395/264690)	-	Apr 27, 2021 (155)
61	TopMed Submission ignored due to conflicting rows: Row 226981015 (NC_000016.10:24914992:T:C 1/264690) Row 226981016 (NC_000016.10:24914992:T:G 14395/264690)	-	Apr 27, 2021 (155)
62	UK 10K study - Twins	NC_000016.9 - 24926314	Oct 12, 2018 (152)
63	ALFA	NC_000016.10 - 24914993	Apr 27, 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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
11201478880, ss5011435354	NC_000016.10:24914992:T:C	NC_000016.10:24914992:T:C	(self)
ss109270167, ss171116097, ss1696427096	NC_000016.8:24833814:T:G	NC_000016.10:24914992:T:G	(self)
68965326, 38282747, 27087672, 4093768, 17077245, 40706732, 14716262, 17857470, 36210952, 9623338, 76947694, 38282747, ss236991947, ss660598800, ss992392793, ss1080562632, ss1355815874, ss1427811207, ss1577879899, ss1634226047, ss1677220080, ss1935815548, ss2028695286, ss2157106984, ss2941617975, ss3014262251, ss3351389947, ss3681349424, ss3741431397, ss3753815619, ss3834527621, ss3840870552, ss3884193972, ss3933529338, ss5218978387, ss5423009832, ss5658687083, ss5846258001, ss5950105980	NC_000016.9:24926313:T:G	NC_000016.10:24914992:T:G	(self)
90482160, 33693288, 107457334, 11201478880, ss2211432586, ss3028170974, ss3699055580, ss3819110007, ss3846361489, ss3977315287, ss5011435355, ss5300537837, ss5493988595, ss5602956225, ss5773620230, ss5898693802	NC_000016.10:24914992:T:G	NC_000016.10:24914992:T:G	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs72770483

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
Top▲ Help
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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs72770483