Name: rs151785
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.

rs151785

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr5:110803270 (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>A / T>C / T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.063931 (16922/264690, TOPMED)
T=0.050933 (7135/140086, GnomAD)
T=0.20582 (5816/28258, 14KJPN) (+ 16 more)
T=0.03626 (849/23414, ALFA)
T=0.20794 (3485/16760, 8.3KJPN)
T=0.0884 (566/6404, 1000G_30x)
T=0.0877 (439/5008, 1000G)
T=0.0199 (89/4480, Estonian)
T=0.0267 (103/3854, ALSPAC)
T=0.0294 (109/3708, TWINSUK)
T=0.2218 (650/2930, KOREAN)
T=0.2325 (426/1832, Korea1K)
T=0.019 (19/998, GoNL)
T=0.008 (5/600, NorthernSweden)
T=0.088 (47/536, SGDP_PRJ)
T=0.046 (10/216, Qatari)
T=0.213 (46/216, Vietnamese)
T=0.12 (6/50, Siberian)
T=0.05 (2/40, GENOME_DK)

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	23414	T=0.03626	C=0.96374
European	Sub	18774	T=0.02445	C=0.97555
African	Sub	2946	T=0.0740	C=0.9260
African Others	Sub	114	T=0.132	C=0.868
African American	Sub	2832	T=0.0717	C=0.9283
Asian	Sub	112	T=0.196	C=0.804
East Asian	Sub	86	T=0.21	C=0.79
Other Asian	Sub	26	T=0.15	C=0.85
Latin American 1	Sub	146	T=0.062	C=0.938
Latin American 2	Sub	610	T=0.133	C=0.867
South Asian	Sub	98	T=0.04	C=0.96
Other	Sub	728	T=0.077	C=0.923

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
TopMed	Global	Study-wide	264690	T=0.063931	C=0.936069
gnomAD - Genomes	Global	Study-wide	140086	T=0.050933	C=0.949067
gnomAD - Genomes	European	Sub	75904	T=0.02278	C=0.97722
gnomAD - Genomes	African	Sub	41948	T=0.07209	C=0.92791
gnomAD - Genomes	American	Sub	13642	T=0.09185	C=0.90815
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	T=0.1029	C=0.8971
gnomAD - Genomes	East Asian	Sub	3118	T=0.2024	C=0.7976
gnomAD - Genomes	Other	Sub	2150	T=0.0726	C=0.9274
14KJPN	JAPANESE	Study-wide	28258	T=0.20582	C=0.79418
Allele Frequency Aggregator	Total	Global	23414	T=0.03626	C=0.96374
Allele Frequency Aggregator	European	Sub	18774	T=0.02445	C=0.97555
Allele Frequency Aggregator	African	Sub	2946	T=0.0740	C=0.9260
Allele Frequency Aggregator	Other	Sub	728	T=0.077	C=0.923
Allele Frequency Aggregator	Latin American 2	Sub	610	T=0.133	C=0.867
Allele Frequency Aggregator	Latin American 1	Sub	146	T=0.062	C=0.938
Allele Frequency Aggregator	Asian	Sub	112	T=0.196	C=0.804
Allele Frequency Aggregator	South Asian	Sub	98	T=0.04	C=0.96
8.3KJPN	JAPANESE	Study-wide	16760	T=0.20794	C=0.79206
1000Genomes_30x	Global	Study-wide	6404	T=0.0884	C=0.9116
1000Genomes_30x	African	Sub	1786	T=0.0784	C=0.9216
1000Genomes_30x	Europe	Sub	1266	T=0.0276	C=0.9724
1000Genomes_30x	South Asian	Sub	1202	T=0.0200	C=0.9800
1000Genomes_30x	East Asian	Sub	1170	T=0.1821	C=0.8179
1000Genomes_30x	American	Sub	980	T=0.157	C=0.843
1000Genomes	Global	Study-wide	5008	T=0.0877	C=0.9123
1000Genomes	African	Sub	1322	T=0.0772	C=0.9228
1000Genomes	East Asian	Sub	1008	T=0.1895	C=0.8105
1000Genomes	Europe	Sub	1006	T=0.0278	C=0.9722
1000Genomes	South Asian	Sub	978	T=0.014	C=0.986
1000Genomes	American	Sub	694	T=0.150	C=0.850
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.0199	C=0.9801
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.0267	C=0.9733
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.0294	C=0.9706
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.2218	A=0.0000, C=0.7782, G=0.0000
Korean Genome Project	KOREAN	Study-wide	1832	T=0.2325	C=0.7675
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.019	C=0.981
Northern Sweden	ACPOP	Study-wide	600	T=0.008	C=0.992
SGDP_PRJ	Global	Study-wide	536	T=0.088	C=0.912
Qatari	Global	Study-wide	216	T=0.046	C=0.954
A Vietnamese Genetic Variation Database	Global	Study-wide	216	T=0.213	C=0.787
Siberian	Global	Study-wide	50	T=0.12	C=0.88
The Danish reference pan genome	Danish	Study-wide	40	T=0.05	C=0.95

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 5	NC_000005.10:g.110803270T>A
GRCh38.p14 chr 5	NC_000005.10:g.110803270T>C
GRCh38.p14 chr 5	NC_000005.10:g.110803270T>G
GRCh37.p13 chr 5	NC_000005.9:g.110138970T>A
GRCh37.p13 chr 5	NC_000005.9:g.110138970T>C
GRCh37.p13 chr 5	NC_000005.9:g.110138970T>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=	A	C	G
GRCh38.p14 chr 5	NC_000005.10:g.110803270=	NC_000005.10:g.110803270T>A	NC_000005.10:g.110803270T>C	NC_000005.10:g.110803270T>G
GRCh37.p13 chr 5	NC_000005.9:g.110138970=	NC_000005.9:g.110138970T>A	NC_000005.9:g.110138970T>C	NC_000005.9:g.110138970T>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#.

103 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	KWOK	ss253335	Jul 12, 2000 (79)
2	KWOK	ss253338	Jul 12, 2000 (126)
3	KWOK	ss314161	Jul 12, 2000 (79)
4	KWOK	ss314832	Jul 12, 2000 (126)
5	SC_JCM	ss624730	Jul 16, 2000 (126)
6	KWOK	ss1116103	Oct 13, 2000 (126)
7	KWOK	ss1117160	Oct 13, 2000 (126)
8	KWOK	ss1287679	Oct 13, 2000 (126)
9	KWOK	ss1287689	Oct 13, 2000 (126)
10	KWOK	ss2033891	Oct 18, 2000 (126)
11	KWOK	ss2034302	Oct 18, 2000 (126)
12	KWOK	ss2034801	Oct 18, 2000 (126)
13	KWOK	ss2075118	Oct 18, 2000 (126)
14	KWOK	ss2075119	Oct 18, 2000 (126)
15	TSC-CSHL	ss5296849	Oct 10, 2002 (126)
16	TSC-CSHL	ss5297084	Oct 10, 2002 (126)
17	TSC-CSHL	ss5514928	Oct 08, 2002 (126)
18	SC_JCM	ss5993573	Feb 20, 2003 (126)
19	BCM_SSAHASNP	ss10198765	Jul 11, 2003 (126)
20	WI_SSAHASNP	ss11704033	Jul 11, 2003 (126)
21	WI_SSAHASNP	ss13487988	Dec 05, 2003 (126)
22	SC_JCM	ss13524960	Dec 05, 2003 (126)
23	BCM_SSAHASNP	ss13582275	Dec 05, 2003 (126)
24	CSHL-HAPMAP	ss17086118	Feb 28, 2004 (126)
25	SSAHASNP	ss22297219	Apr 05, 2004 (126)
26	ABI	ss42507597	Mar 10, 2006 (126)
27	BCMHGSC_JDW	ss93205780	Mar 24, 2008 (129)
28	HUMANGENOME_JCVI	ss98638482	Feb 05, 2009 (130)
29	BGI	ss105943710	Feb 05, 2009 (130)
30	1000GENOMES	ss112350430	Jan 25, 2009 (130)
31	ILLUMINA-UK	ss116756116	Dec 01, 2009 (131)
32	ENSEMBL	ss143350918	Dec 01, 2009 (131)
33	ENSEMBL	ss143910641	Dec 01, 2009 (131)
34	GMI	ss155874957	Dec 01, 2009 (131)
35	COMPLETE_GENOMICS	ss162539188	Jul 04, 2010 (132)
36	COMPLETE_GENOMICS	ss165688909	Jul 04, 2010 (132)
37	COMPLETE_GENOMICS	ss166926331	Jul 04, 2010 (132)
38	BUSHMAN	ss200672670	Jul 04, 2010 (132)
39	BCM-HGSC-SUB	ss206742827	Jul 04, 2010 (132)
40	1000GENOMES	ss210617491	Jul 14, 2010 (132)
41	1000GENOMES	ss221876904	Jul 14, 2010 (132)
42	1000GENOMES	ss233087204	Jul 14, 2010 (132)
43	1000GENOMES	ss240224516	Jul 15, 2010 (132)
44	BL	ss253705871	May 09, 2011 (134)
45	GMI	ss278425730	May 04, 2012 (137)
46	GMI	ss285238397	Apr 25, 2013 (138)
47	PJP	ss293432147	May 09, 2011 (134)
48	ILLUMINA	ss483374909	May 04, 2012 (137)
49	ILLUMINA	ss484905578	May 04, 2012 (137)
50	TISHKOFF	ss558614924	Apr 25, 2013 (138)
51	SSMP	ss652504529	Apr 25, 2013 (138)
52	ILLUMINA	ss782130609	Sep 08, 2015 (146)
53	EVA-GONL	ss981955906	Aug 21, 2014 (142)
54	JMKIDD_LAB	ss1072918950	Aug 21, 2014 (142)
55	1000GENOMES	ss1316582773	Aug 21, 2014 (142)
56	DDI	ss1430456216	Apr 01, 2015 (144)
57	EVA_GENOME_DK	ss1581285402	Apr 01, 2015 (144)
58	EVA_DECODE	ss1591477689	Apr 01, 2015 (144)
59	EVA_UK10K_ALSPAC	ss1613672167	Apr 01, 2015 (144)
60	EVA_UK10K_TWINSUK	ss1656666200	Apr 01, 2015 (144)
61	HAMMER_LAB	ss1804011580	Sep 08, 2015 (146)
62	WEILL_CORNELL_DGM	ss1925209794	Feb 12, 2016 (147)
63	GENOMED	ss1970174723	Jul 19, 2016 (147)
64	JJLAB	ss2023211466	Sep 14, 2016 (149)
65	USC_VALOUEV	ss2151367751	Dec 20, 2016 (150)
66	HUMAN_LONGEVITY	ss2276820497	Dec 20, 2016 (150)
67	SYSTEMSBIOZJU	ss2626097101	Nov 08, 2017 (151)
68	ILLUMINA	ss2634321340	Nov 08, 2017 (151)
69	GRF	ss2706925627	Nov 08, 2017 (151)
70	GNOMAD	ss2828972712	Nov 08, 2017 (151)
71	SWEGEN	ss2997540557	Nov 08, 2017 (151)
72	BIOINF_KMB_FNS_UNIBA	ss3025388673	Nov 08, 2017 (151)
73	CSHL	ss3346555859	Nov 08, 2017 (151)
74	ILLUMINA	ss3642435320	Oct 12, 2018 (152)
75	URBANLAB	ss3648138177	Oct 12, 2018 (152)
76	EGCUT_WGS	ss3665438737	Jul 13, 2019 (153)
77	EVA_DECODE	ss3715399565	Jul 13, 2019 (153)
78	ACPOP	ss3732680264	Jul 13, 2019 (153)
79	EVA	ss3763870636	Jul 13, 2019 (153)
80	PACBIO	ss3785209423	Jul 13, 2019 (153)
81	PACBIO	ss3790599515	Jul 13, 2019 (153)
82	PACBIO	ss3795476291	Jul 13, 2019 (153)
83	KHV_HUMAN_GENOMES	ss3807042950	Jul 13, 2019 (153)
84	EVA	ss3829426211	Apr 26, 2020 (154)
85	EVA	ss3838188905	Apr 26, 2020 (154)
86	EVA	ss3843630825	Apr 26, 2020 (154)
87	SGDP_PRJ	ss3862647283	Apr 26, 2020 (154)
88	KRGDB	ss3909259961	Apr 26, 2020 (154)
89	KOGIC	ss3957367444	Apr 26, 2020 (154)
90	TOPMED	ss4673183720	Apr 26, 2021 (155)
91	TOMMO_GENOMICS	ss5173444727	Apr 26, 2021 (155)
92	1000G_HIGH_COVERAGE	ss5265290344	Oct 17, 2022 (156)
93	EVA	ss5315075504	Oct 17, 2022 (156)
94	EVA	ss5359958198	Oct 17, 2022 (156)
95	HUGCELL_USP	ss5463317399	Oct 17, 2022 (156)
96	1000G_HIGH_COVERAGE	ss5549649352	Oct 17, 2022 (156)
97	SANFORD_IMAGENETICS	ss5638562803	Oct 17, 2022 (156)
98	TOMMO_GENOMICS	ss5710324650	Oct 17, 2022 (156)
99	YY_MCH	ss5806635800	Oct 17, 2022 (156)
100	EVA	ss5835429558	Oct 17, 2022 (156)
101	EVA	ss5854956208	Oct 17, 2022 (156)
102	EVA	ss5895681525	Oct 17, 2022 (156)
103	EVA	ss5967011835	Oct 17, 2022 (156)
104	1000Genomes	NC_000005.9 - 110138970	Oct 12, 2018 (152)
105	1000Genomes_30x	NC_000005.10 - 110803270	Oct 17, 2022 (156)
106	The Avon Longitudinal Study of Parents and Children	NC_000005.9 - 110138970	Oct 12, 2018 (152)
107	Genetic variation in the Estonian population	NC_000005.9 - 110138970	Oct 12, 2018 (152)
108	The Danish reference pan genome	NC_000005.9 - 110138970	Apr 26, 2020 (154)
109	gnomAD - Genomes	NC_000005.10 - 110803270	Apr 26, 2021 (155)
110	Genome of the Netherlands Release 5	NC_000005.9 - 110138970	Apr 26, 2020 (154)
111	KOREAN population from KRGDB	NC_000005.9 - 110138970	Apr 26, 2020 (154)
112	Korean Genome Project	NC_000005.10 - 110803270	Apr 26, 2020 (154)
113	Northern Sweden	NC_000005.9 - 110138970	Jul 13, 2019 (153)
114	Qatari	NC_000005.9 - 110138970	Apr 26, 2020 (154)
115	SGDP_PRJ	NC_000005.9 - 110138970	Apr 26, 2020 (154)
116	Siberian	NC_000005.9 - 110138970	Apr 26, 2020 (154)
117	8.3KJPN	NC_000005.9 - 110138970	Apr 26, 2021 (155)
118	14KJPN	NC_000005.10 - 110803270	Oct 17, 2022 (156)
119	TopMed	NC_000005.10 - 110803270	Apr 26, 2021 (155)
120	UK 10K study - Twins	NC_000005.9 - 110138970	Oct 12, 2018 (152)
121	A Vietnamese Genetic Variation Database	NC_000005.9 - 110138970	Jul 13, 2019 (153)
122	ALFA	NC_000005.10 - 110803270	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)
rs151808	Mar 10, 2006 (126)
rs1069728	Feb 20, 2003 (111)
rs1069736	Mar 10, 2006 (126)
rs1154300	Feb 20, 2003 (111)
rs1154322	Jun 15, 2001 (96)
rs1289132	Jun 15, 2001 (96)
rs3985010	Feb 20, 2003 (111)
rs3985081	Feb 20, 2003 (111)
rs9687802	Mar 10, 2006 (126)
rs9716944	Mar 10, 2006 (126)
rs9765132	Mar 10, 2006 (126)
rs11747951	Oct 08, 2004 (123)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
16437355, ss3909259961	NC_000005.9:110138969:T:A	NC_000005.10:110803269:T:A	(self)
ss93205780, ss112350430, ss116756116, ss162539188, ss165688909, ss166926331, ss200672670, ss206742827, ss210617491, ss253705871, ss278425730, ss285238397, ss293432147, ss484905578, ss1591477689	NC_000005.8:110166868:T:C	NC_000005.10:110803269:T:C	(self)
28239516, 15701802, 11176985, 7450341, 6978644, 16437355, 5965129, 7251724, 14664263, 3884105, 31414034, 15701802, 3483922, ss221876904, ss233087204, ss240224516, ss483374909, ss558614924, ss652504529, ss782130609, ss981955906, ss1072918950, ss1316582773, ss1430456216, ss1581285402, ss1613672167, ss1656666200, ss1804011580, ss1925209794, ss1970174723, ss2023211466, ss2151367751, ss2626097101, ss2634321340, ss2706925627, ss2828972712, ss2997540557, ss3346555859, ss3642435320, ss3665438737, ss3732680264, ss3763870636, ss3785209423, ss3790599515, ss3795476291, ss3829426211, ss3838188905, ss3862647283, ss3909259961, ss5173444727, ss5315075504, ss5359958198, ss5638562803, ss5835429558, ss5967011835	NC_000005.9:110138969:T:C	NC_000005.10:110803269:T:C	(self)
37175287, 199780270, 13745445, 44161754, 510561277, 10864170994, ss2276820497, ss3025388673, ss3648138177, ss3715399565, ss3807042950, ss3843630825, ss3957367444, ss4673183720, ss5265290344, ss5463317399, ss5549649352, ss5710324650, ss5806635800, ss5854956208, ss5895681525	NC_000005.10:110803269:T:C	NC_000005.10:110803269:T:C	(self)
ss10198765, ss11704033	NT_034772.4:12553989:T:C	NC_000005.10:110803269:T:C	(self)
ss13487988, ss13524960, ss13582275, ss17086118, ss22297219	NT_034772.5:12553982:T:C	NC_000005.10:110803269:T:C	(self)
ss253335, ss253338, ss314161, ss314832, ss624730, ss1116103, ss1117160, ss1287679, ss1287689, ss2033891, ss2034302, ss2034801, ss2075118, ss2075119, ss5296849, ss5297084, ss5514928, ss5993573, ss42507597, ss98638482, ss105943710, ss143350918, ss143910641, ss155874957	NT_034772.6:18452841:T:C	NC_000005.10:110803269:T:C	(self)
16437355, ss3909259961	NC_000005.9:110138969:T:G	NC_000005.10:110803269: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 rs151785

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs151785