Name: rs10941694
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.

rs10941694

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr5:45197677 (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=0.149447 (39557/264690, TOPMED)
A=0.174400 (30762/176388, ALFA)
A=0.141908 (19847/139858, GnomAD) (+ 21 more)
A=0.13219 (10403/78698, PAGE_STUDY)
A=0.14240 (4024/28258, 14KJPN)
A=0.14737 (2470/16760, 8.3KJPN)
A=0.1316 (843/6404, 1000G_30x)
A=0.1344 (673/5008, 1000G)
A=0.1357 (608/4480, Estonian)
A=0.1819 (701/3854, ALSPAC)
A=0.1788 (663/3708, TWINSUK)
A=0.1406 (412/2930, KOREAN)
A=0.1376 (252/1832, Korea1K)
A=0.160 (160/998, GoNL)
A=0.124 (98/792, PRJEB37584)
A=0.122 (73/600, NorthernSweden)
A=0.021 (6/288, HapMap)
A=0.176 (38/216, Qatari)
A=0.075 (16/214, Vietnamese)
G=0.415 (59/142, SGDP_PRJ)
A=0.15 (6/40, GENOME_DK)
A=0.00 (0/24, Ancient Sardinia)
G=0.50 (6/12, Siberian)
A=0.50 (6/12, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: None
Publications: 1 citation
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	176604	G=0.825536	A=0.174464
European	Sub	153890	G=0.819845	A=0.180155
African	Sub	4354	G=0.9449	A=0.0551
African Others	Sub	168	G=0.958	A=0.042
African American	Sub	4186	G=0.9443	A=0.0557
Asian	Sub	6288	G=0.8833	A=0.1167
East Asian	Sub	4470	G=0.8828	A=0.1172
Other Asian	Sub	1818	G=0.8845	A=0.1155
Latin American 1	Sub	442	G=0.817	A=0.183
Latin American 2	Sub	950	G=0.744	A=0.256
South Asian	Sub	280	G=0.814	A=0.186
Other	Sub	10400	G=0.83298	A=0.16702

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=0.850553	A=0.149447
Allele Frequency Aggregator	Total	Global	176388	G=0.825600	A=0.174400
Allele Frequency Aggregator	European	Sub	153710	G=0.819895	A=0.180105
Allele Frequency Aggregator	Other	Sub	10378	G=0.83330	A=0.16670
Allele Frequency Aggregator	Asian	Sub	6288	G=0.8833	A=0.1167
Allele Frequency Aggregator	African	Sub	4340	G=0.9452	A=0.0548
Allele Frequency Aggregator	Latin American 2	Sub	950	G=0.744	A=0.256
Allele Frequency Aggregator	Latin American 1	Sub	442	G=0.817	A=0.183
Allele Frequency Aggregator	South Asian	Sub	280	G=0.814	A=0.186
gnomAD - Genomes	Global	Study-wide	139858	G=0.858092	A=0.141908
gnomAD - Genomes	European	Sub	75774	G=0.83265	A=0.16735
gnomAD - Genomes	African	Sub	41856	G=0.94209	A=0.05791
gnomAD - Genomes	American	Sub	13632	G=0.77105	A=0.22895
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	G=0.7225	A=0.2775
gnomAD - Genomes	East Asian	Sub	3124	G=0.8848	A=0.1152
gnomAD - Genomes	Other	Sub	2150	G=0.8423	A=0.1577
The PAGE Study	Global	Study-wide	78698	G=0.86781	A=0.13219
The PAGE Study	AfricanAmerican	Sub	32516	G=0.93828	A=0.06172
The PAGE Study	Mexican	Sub	10810	G=0.73682	A=0.26318
The PAGE Study	Asian	Sub	8318	G=0.8569	A=0.1431
The PAGE Study	PuertoRican	Sub	7914	G=0.8297	A=0.1703
The PAGE Study	NativeHawaiian	Sub	4534	G=0.9025	A=0.0975
The PAGE Study	Cuban	Sub	4230	G=0.8258	A=0.1742
The PAGE Study	Dominican	Sub	3828	G=0.8741	A=0.1259
The PAGE Study	CentralAmerican	Sub	2450	G=0.7759	A=0.2241
The PAGE Study	SouthAmerican	Sub	1982	G=0.7987	A=0.2013
The PAGE Study	NativeAmerican	Sub	1260	G=0.8024	A=0.1976
The PAGE Study	SouthAsian	Sub	856	G=0.819	A=0.181
14KJPN	JAPANESE	Study-wide	28258	G=0.85760	A=0.14240
8.3KJPN	JAPANESE	Study-wide	16760	G=0.85263	A=0.14737
1000Genomes_30x	Global	Study-wide	6404	G=0.8684	A=0.1316
1000Genomes_30x	African	Sub	1786	G=0.9703	A=0.0297
1000Genomes_30x	Europe	Sub	1266	G=0.8302	A=0.1698
1000Genomes_30x	South Asian	Sub	1202	G=0.8270	A=0.1730
1000Genomes_30x	East Asian	Sub	1170	G=0.8949	A=0.1051
1000Genomes_30x	American	Sub	980	G=0.751	A=0.249
1000Genomes	Global	Study-wide	5008	G=0.8656	A=0.1344
1000Genomes	African	Sub	1322	G=0.9697	A=0.0303
1000Genomes	East Asian	Sub	1008	G=0.8929	A=0.1071
1000Genomes	Europe	Sub	1006	G=0.8270	A=0.1730
1000Genomes	South Asian	Sub	978	G=0.816	A=0.184
1000Genomes	American	Sub	694	G=0.754	A=0.246
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.8643	A=0.1357
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.8181	A=0.1819
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.8212	A=0.1788
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.8594	A=0.1406
Korean Genome Project	KOREAN	Study-wide	1832	G=0.8624	A=0.1376
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.840	A=0.160
CNV burdens in cranial meningiomas	Global	Study-wide	792	G=0.876	A=0.124
CNV burdens in cranial meningiomas	CRM	Sub	792	G=0.876	A=0.124
Northern Sweden	ACPOP	Study-wide	600	G=0.878	A=0.122
HapMap	Global	Study-wide	288	G=0.979	A=0.021
HapMap	African	Sub	110	G=1.000	A=0.000
HapMap	American	Sub	98	G=0.96	A=0.04
HapMap	Asian	Sub	80	G=0.97	A=0.03
Qatari	Global	Study-wide	216	G=0.824	A=0.176
A Vietnamese Genetic Variation Database	Global	Study-wide	214	G=0.925	A=0.075
SGDP_PRJ	Global	Study-wide	142	G=0.415	A=0.585
The Danish reference pan genome	Danish	Study-wide	40	G=0.85	A=0.15
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	24	G=1.00	A=0.00
Siberian	Global	Study-wide	12	G=0.50	A=0.50

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.45197677G>A
GRCh37.p13 chr 5	NC_000005.9:g.45197779G>A

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	G=	A
GRCh38.p14 chr 5	NC_000005.10:g.45197677=	NC_000005.10:g.45197677G>A
GRCh37.p13 chr 5	NC_000005.9:g.45197779=	NC_000005.9:g.45197779G>A

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#.

79 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss18339704	Feb 27, 2004 (120)
2	CSHL-HAPMAP	ss19619185	Feb 27, 2004 (120)
3	ABI	ss44660576	Mar 14, 2006 (126)
4	BCMHGSC_JDW	ss93081495	Mar 24, 2008 (129)
5	ENSEMBL	ss143094854	Dec 01, 2009 (131)
6	COMPLETE_GENOMICS	ss166489071	Jul 04, 2010 (132)
7	1000GENOMES	ss232928617	Jul 14, 2010 (132)
8	1000GENOMES	ss240105861	Jul 15, 2010 (132)
9	GMI	ss278269408	May 04, 2012 (137)
10	GMI	ss285167282	Apr 25, 2013 (138)
11	EXOME_CHIP	ss491366302	May 04, 2012 (137)
12	SSMP	ss652224260	Apr 25, 2013 (138)
13	ILLUMINA	ss780680831	Sep 08, 2015 (146)
14	ILLUMINA	ss783354122	Sep 08, 2015 (146)
15	EVA-GONL	ss981515402	Aug 21, 2014 (142)
16	JMKIDD_LAB	ss1072594467	Aug 21, 2014 (142)
17	1000GENOMES	ss1314905407	Aug 21, 2014 (142)
18	DDI	ss1430327440	Apr 01, 2015 (144)
19	EVA_GENOME_DK	ss1581119381	Apr 01, 2015 (144)
20	EVA_DECODE	ss1591038991	Apr 01, 2015 (144)
21	EVA_UK10K_ALSPAC	ss1612792670	Apr 01, 2015 (144)
22	EVA_UK10K_TWINSUK	ss1655786703	Apr 01, 2015 (144)
23	ILLUMINA	ss1752576388	Sep 08, 2015 (146)
24	ILLUMINA	ss1917789649	Feb 12, 2016 (147)
25	WEILL_CORNELL_DGM	ss1924775346	Feb 12, 2016 (147)
26	ILLUMINA	ss1946143371	Feb 12, 2016 (147)
27	ILLUMINA	ss1958784747	Feb 12, 2016 (147)
28	GENOMED	ss1970078487	Jul 19, 2016 (147)
29	JJLAB	ss2022991437	Sep 14, 2016 (149)
30	USC_VALOUEV	ss2151143297	Dec 20, 2016 (150)
31	HUMAN_LONGEVITY	ss2273413775	Dec 20, 2016 (150)
32	ILLUMINA	ss2634274644	Nov 08, 2017 (151)
33	ILLUMINA	ss2635143807	Nov 08, 2017 (151)
34	GRF	ss2706681983	Nov 08, 2017 (151)
35	GNOMAD	ss2824009744	Nov 08, 2017 (151)
36	AFFY	ss2985320740	Nov 08, 2017 (151)
37	SWEGEN	ss2996844374	Nov 08, 2017 (151)
38	ILLUMINA	ss3022485883	Nov 08, 2017 (151)
39	BIOINF_KMB_FNS_UNIBA	ss3025280144	Nov 08, 2017 (151)
40	CSHL	ss3346364555	Nov 08, 2017 (151)
41	ILLUMINA	ss3629227296	Oct 12, 2018 (152)
42	ILLUMINA	ss3635000362	Oct 12, 2018 (152)
43	ILLUMINA	ss3640707655	Oct 12, 2018 (152)
44	ILLUMINA	ss3644876299	Oct 12, 2018 (152)
45	ILLUMINA	ss3652981386	Oct 12, 2018 (152)
46	ILLUMINA	ss3654094055	Oct 12, 2018 (152)
47	EGCUT_WGS	ss3664743594	Jul 13, 2019 (153)
48	EVA_DECODE	ss3714593147	Jul 13, 2019 (153)
49	ILLUMINA	ss3726230382	Jul 13, 2019 (153)
50	ACPOP	ss3732314922	Jul 13, 2019 (153)
51	ILLUMINA	ss3744535156	Jul 13, 2019 (153)
52	ILLUMINA	ss3745300565	Jul 13, 2019 (153)
53	EVA	ss3763373998	Jul 13, 2019 (153)
54	PAGE_CC	ss3771199956	Jul 13, 2019 (153)
55	ILLUMINA	ss3772794793	Jul 13, 2019 (153)
56	KHV_HUMAN_GENOMES	ss3806548027	Jul 13, 2019 (153)
57	EVA	ss3829222731	Apr 26, 2020 (154)
58	SGDP_PRJ	ss3861751499	Apr 26, 2020 (154)
59	KRGDB	ss3908240474	Apr 26, 2020 (154)
60	KOGIC	ss3956550165	Apr 26, 2020 (154)
61	EVA	ss3984546441	Apr 26, 2021 (155)
62	EVA	ss3985138644	Apr 26, 2021 (155)
63	TOPMED	ss4658251036	Apr 26, 2021 (155)
64	TOMMO_GENOMICS	ss5171510935	Apr 26, 2021 (155)
65	1000G_HIGH_COVERAGE	ss5263768684	Oct 13, 2022 (156)
66	EVA	ss5315049026	Oct 13, 2022 (156)
67	EVA	ss5357253468	Oct 13, 2022 (156)
68	HUGCELL_USP	ss5462010664	Oct 13, 2022 (156)
69	EVA	ss5508005050	Oct 13, 2022 (156)
70	1000G_HIGH_COVERAGE	ss5547296484	Oct 13, 2022 (156)
71	SANFORD_IMAGENETICS	ss5624588239	Oct 13, 2022 (156)
72	SANFORD_IMAGENETICS	ss5637706382	Oct 13, 2022 (156)
73	TOMMO_GENOMICS	ss5707496811	Oct 13, 2022 (156)
74	YY_MCH	ss5806242483	Oct 13, 2022 (156)
75	EVA	ss5834865765	Oct 13, 2022 (156)
76	EVA	ss5848048280	Oct 13, 2022 (156)
77	EVA	ss5854794849	Oct 13, 2022 (156)
78	EVA	ss5893994751	Oct 13, 2022 (156)
79	EVA	ss5966129765	Oct 13, 2022 (156)
80	1000Genomes	NC_000005.9 - 45197779	Oct 12, 2018 (152)
81	1000Genomes_30x	NC_000005.10 - 45197677	Oct 13, 2022 (156)
82	The Avon Longitudinal Study of Parents and Children	NC_000005.9 - 45197779	Oct 12, 2018 (152)
83	Genetic variation in the Estonian population	NC_000005.9 - 45197779	Oct 12, 2018 (152)
84	The Danish reference pan genome	NC_000005.9 - 45197779	Apr 26, 2020 (154)
85	gnomAD - Genomes	NC_000005.10 - 45197677	Apr 26, 2021 (155)
86	Genome of the Netherlands Release 5	NC_000005.9 - 45197779	Apr 26, 2020 (154)
87	HapMap	NC_000005.10 - 45197677	Apr 26, 2020 (154)
88	KOREAN population from KRGDB	NC_000005.9 - 45197779	Apr 26, 2020 (154)
89	Korean Genome Project	NC_000005.10 - 45197677	Apr 26, 2020 (154)
90	Northern Sweden	NC_000005.9 - 45197779	Jul 13, 2019 (153)
91	The PAGE Study	NC_000005.10 - 45197677	Jul 13, 2019 (153)
92	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000005.9 - 45197779	Apr 26, 2021 (155)
93	CNV burdens in cranial meningiomas	NC_000005.9 - 45197779	Apr 26, 2021 (155)
94	Qatari	NC_000005.9 - 45197779	Apr 26, 2020 (154)
95	SGDP_PRJ	NC_000005.9 - 45197779	Apr 26, 2020 (154)
96	Siberian	NC_000005.9 - 45197779	Apr 26, 2020 (154)
97	8.3KJPN	NC_000005.9 - 45197779	Apr 26, 2021 (155)
98	14KJPN	NC_000005.10 - 45197677	Oct 13, 2022 (156)
99	TopMed	NC_000005.10 - 45197677	Apr 26, 2021 (155)
100	UK 10K study - Twins	NC_000005.9 - 45197779	Oct 12, 2018 (152)
101	A Vietnamese Genetic Variation Database	NC_000005.9 - 45197779	Jul 13, 2019 (153)
102	ALFA	NC_000005.10 - 45197677	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss93081495, ss166489071, ss278269408, ss285167282, ss1591038991, ss2635143807	NC_000005.8:45233535:G:A	NC_000005.10:45197676:G:A	(self)
26498806, 14735888, 10481842, 7284320, 6549691, 15417868, 5599787, 364571, 95806, 6817276, 13768479, 3659651, 29480242, 14735888, 3275056, ss232928617, ss240105861, ss491366302, ss652224260, ss780680831, ss783354122, ss981515402, ss1072594467, ss1314905407, ss1430327440, ss1581119381, ss1612792670, ss1655786703, ss1752576388, ss1917789649, ss1924775346, ss1946143371, ss1958784747, ss1970078487, ss2022991437, ss2151143297, ss2634274644, ss2706681983, ss2824009744, ss2985320740, ss2996844374, ss3022485883, ss3346364555, ss3629227296, ss3635000362, ss3640707655, ss3644876299, ss3652981386, ss3654094055, ss3664743594, ss3732314922, ss3744535156, ss3745300565, ss3763373998, ss3772794793, ss3829222731, ss3861751499, ss3908240474, ss3984546441, ss3985138644, ss5171510935, ss5315049026, ss5357253468, ss5508005050, ss5624588239, ss5637706382, ss5834865765, ss5848048280, ss5966129765	NC_000005.9:45197778:G:A	NC_000005.10:45197676:G:A	(self)
34822419, 187198029, 2858707, 12928166, 421425, 41333915, 495628593, 14507398269, ss2273413775, ss3025280144, ss3714593147, ss3726230382, ss3771199956, ss3806548027, ss3956550165, ss4658251036, ss5263768684, ss5462010664, ss5547296484, ss5707496811, ss5806242483, ss5854794849, ss5893994751	NC_000005.10:45197676:G:A	NC_000005.10:45197676:G:A	(self)
ss19619185	NT_006576.14:27649884:G:A	NC_000005.10:45197676:G:A	(self)
ss18339704, ss44660576, ss143094854	NT_006576.16:45187778:G:A	NC_000005.10:45197676:G:A	(self)

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

1 citation for rs10941694

PMID	Title	Author	Year	Journal
21995669	A genome-wide survey for SNPs altering microRNA seed sites identifies functional candidates in GWAS.	Richardson K et al.	2011	BMC genomics

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs10941694