Name: rs7951645
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.

rs7951645

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:114362011 (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: A>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.350659 (92816/264690, TOPMED)
C=0.361202 (50548/139944, GnomAD)
C=0.32161 (9088/28258, 14KJPN) (+ 17 more)
C=0.39251 (8848/22542, ALFA)
C=0.31961 (5356/16758, 8.3KJPN)
C=0.3424 (2193/6404, 1000G_30x)
C=0.3462 (1734/5008, 1000G)
C=0.4951 (2218/4480, Estonian)
C=0.4419 (1703/3854, ALSPAC)
C=0.4434 (1644/3708, TWINSUK)
C=0.3403 (997/2930, KOREAN)
C=0.3215 (589/1832, Korea1K)
C=0.463 (462/998, GoNL)
C=0.497 (298/600, NorthernSweden)
A=0.367 (130/354, SGDP_PRJ)
C=0.253 (77/304, HapMap)
C=0.394 (85/216, Qatari)
C=0.377 (80/212, Vietnamese)
A=0.29 (14/48, Siberian)
C=0.47 (19/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: LOC101928940 : Non Coding Transcript Variant
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	22542	A=0.60749	C=0.39251
European	Sub	16454	A=0.54777	C=0.45223
African	Sub	4084	A=0.8528	C=0.1472
African Others	Sub	144	A=0.917	C=0.083
African American	Sub	3940	A=0.8505	C=0.1495
Asian	Sub	116	A=0.672	C=0.328
East Asian	Sub	88	A=0.70	C=0.30
Other Asian	Sub	28	A=0.57	C=0.43
Latin American 1	Sub	154	A=0.617	C=0.383
Latin American 2	Sub	616	A=0.518	C=0.482
South Asian	Sub	98	A=0.68	C=0.32
Other	Sub	1020	A=0.6265	C=0.3735

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	A=0.649341	C=0.350659
gnomAD - Genomes	Global	Study-wide	139944	A=0.638798	C=0.361202
gnomAD - Genomes	European	Sub	75816	A=0.54396	C=0.45604
gnomAD - Genomes	African	Sub	41924	A=0.84069	C=0.15931
gnomAD - Genomes	American	Sub	13618	A=0.55764	C=0.44236
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	A=0.6403	C=0.3597
gnomAD - Genomes	East Asian	Sub	3120	A=0.5913	C=0.4087
gnomAD - Genomes	Other	Sub	2144	A=0.6269	C=0.3731
14KJPN	JAPANESE	Study-wide	28258	A=0.67839	C=0.32161
Allele Frequency Aggregator	Total	Global	22542	A=0.60749	C=0.39251
Allele Frequency Aggregator	European	Sub	16454	A=0.54777	C=0.45223
Allele Frequency Aggregator	African	Sub	4084	A=0.8528	C=0.1472
Allele Frequency Aggregator	Other	Sub	1020	A=0.6265	C=0.3735
Allele Frequency Aggregator	Latin American 2	Sub	616	A=0.518	C=0.482
Allele Frequency Aggregator	Latin American 1	Sub	154	A=0.617	C=0.383
Allele Frequency Aggregator	Asian	Sub	116	A=0.672	C=0.328
Allele Frequency Aggregator	South Asian	Sub	98	A=0.68	C=0.32
8.3KJPN	JAPANESE	Study-wide	16758	A=0.68039	C=0.31961
1000Genomes_30x	Global	Study-wide	6404	A=0.6576	C=0.3424
1000Genomes_30x	African	Sub	1786	A=0.8914	C=0.1086
1000Genomes_30x	Europe	Sub	1266	A=0.5166	C=0.4834
1000Genomes_30x	South Asian	Sub	1202	A=0.6423	C=0.3577
1000Genomes_30x	East Asian	Sub	1170	A=0.5855	C=0.4145
1000Genomes_30x	American	Sub	980	A=0.518	C=0.482
1000Genomes	Global	Study-wide	5008	A=0.6538	C=0.3462
1000Genomes	African	Sub	1322	A=0.8843	C=0.1157
1000Genomes	East Asian	Sub	1008	A=0.5883	C=0.4117
1000Genomes	Europe	Sub	1006	A=0.5209	C=0.4791
1000Genomes	South Asian	Sub	978	A=0.636	C=0.364
1000Genomes	American	Sub	694	A=0.527	C=0.473
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.5049	C=0.4951
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.5581	C=0.4419
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.5566	C=0.4434
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.6597	C=0.3403
Korean Genome Project	KOREAN	Study-wide	1832	A=0.6785	C=0.3215
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.537	C=0.463
Northern Sweden	ACPOP	Study-wide	600	A=0.503	C=0.497
SGDP_PRJ	Global	Study-wide	354	A=0.367	C=0.633
HapMap	Global	Study-wide	304	A=0.747	C=0.253
HapMap	African	Sub	114	A=0.895	C=0.105
HapMap	American	Sub	110	A=0.582	C=0.418
HapMap	Asian	Sub	80	A=0.76	C=0.24
Qatari	Global	Study-wide	216	A=0.606	C=0.394
A Vietnamese Genetic Variation Database	Global	Study-wide	212	A=0.623	C=0.377
Siberian	Global	Study-wide	48	A=0.29	C=0.71
The Danish reference pan genome	Danish	Study-wide	40	A=0.53	C=0.47

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 11	NC_000011.10:g.114362011A>C
GRCh37.p13 chr 11	NC_000011.9:g.114232733A>C

Gene: LOC101928940, uncharacterized LOC101928940 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC101928940 transcript	NR_120567.1:n.2455T>G	N/A	Non Coding Transcript 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.

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	A=	C
GRCh38.p14 chr 11	NC_000011.10:g.114362011=	NC_000011.10:g.114362011A>C
GRCh37.p13 chr 11	NC_000011.9:g.114232733=	NC_000011.9:g.114232733A>C
LOC101928940 transcript	NR_120567.1:n.2455=	NR_120567.1:n.2455T>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#.

64 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss12172920	Jul 11, 2003 (116)
2	SC_SNP	ss15804009	Feb 27, 2004 (120)
3	ABI	ss40066134	Mar 14, 2006 (126)
4	HUMANGENOME_JCVI	ss97512887	Feb 05, 2009 (130)
5	BGI	ss103002501	Dec 01, 2009 (131)
6	ILLUMINA-UK	ss119962130	Dec 01, 2009 (131)
7	ENSEMBL	ss142519489	Dec 01, 2009 (131)
8	GMI	ss156817856	Dec 01, 2009 (131)
9	ILLUMINA	ss174635621	Jul 04, 2010 (132)
10	1000GENOMES	ss210801771	Jul 14, 2010 (132)
11	1000GENOMES	ss225473161	Jul 14, 2010 (132)
12	1000GENOMES	ss235727531	Jul 15, 2010 (132)
13	1000GENOMES	ss242323976	Jul 15, 2010 (132)
14	GMI	ss281178971	May 04, 2012 (137)
15	ILLUMINA	ss537535232	Sep 08, 2015 (146)
16	TISHKOFF	ss562839352	Apr 25, 2013 (138)
17	SSMP	ss658363058	Apr 25, 2013 (138)
18	EVA-GONL	ss988985232	Aug 21, 2014 (142)
19	JMKIDD_LAB	ss1078061853	Aug 21, 2014 (142)
20	1000GENOMES	ss1343051764	Aug 21, 2014 (142)
21	DDI	ss1426767426	Apr 01, 2015 (144)
22	EVA_GENOME_DK	ss1575965574	Apr 01, 2015 (144)
23	EVA_UK10K_ALSPAC	ss1627509295	Apr 01, 2015 (144)
24	EVA_UK10K_TWINSUK	ss1670503328	Apr 01, 2015 (144)
25	WEILL_CORNELL_DGM	ss1932346612	Feb 12, 2016 (147)
26	GENOMED	ss1967464214	Jul 19, 2016 (147)
27	JJLAB	ss2026917205	Sep 14, 2016 (149)
28	USC_VALOUEV	ss2155229998	Dec 20, 2016 (150)
29	HUMAN_LONGEVITY	ss2185886320	Dec 20, 2016 (150)
30	SYSTEMSBIOZJU	ss2627933381	Nov 08, 2017 (151)
31	ILLUMINA	ss2632890100	Nov 08, 2017 (151)
32	GRF	ss2699540326	Nov 08, 2017 (151)
33	GNOMAD	ss2904699110	Nov 08, 2017 (151)
34	SWEGEN	ss3008814226	Nov 08, 2017 (151)
35	BIOINF_KMB_FNS_UNIBA	ss3027259424	Nov 08, 2017 (151)
36	CSHL	ss3349804797	Nov 08, 2017 (151)
37	ILLUMINA	ss3626754868	Oct 12, 2018 (152)
38	ILLUMINA	ss3637931695	Oct 12, 2018 (152)
39	URBANLAB	ss3649709540	Oct 12, 2018 (152)
40	EGCUT_WGS	ss3676142211	Jul 13, 2019 (153)
41	EVA_DECODE	ss3692640751	Jul 13, 2019 (153)
42	ACPOP	ss3738558441	Jul 13, 2019 (153)
43	EVA	ss3749838810	Jul 13, 2019 (153)
44	KHV_HUMAN_GENOMES	ss3815168587	Jul 13, 2019 (153)
45	EVA	ss3832849723	Apr 26, 2020 (154)
46	EVA	ss3839987337	Apr 26, 2020 (154)
47	EVA	ss3845469089	Apr 26, 2020 (154)
48	SGDP_PRJ	ss3877181140	Apr 26, 2020 (154)
49	KRGDB	ss3925640566	Apr 26, 2020 (154)
50	KOGIC	ss3970790605	Apr 26, 2020 (154)
51	EVA	ss4017560216	Apr 26, 2021 (155)
52	TOPMED	ss4900729274	Apr 26, 2021 (155)
53	TOMMO_GENOMICS	ss5203984647	Apr 26, 2021 (155)
54	1000G_HIGH_COVERAGE	ss5288976604	Oct 16, 2022 (156)
55	HUGCELL_USP	ss5483958745	Oct 16, 2022 (156)
56	EVA	ss5510529261	Oct 16, 2022 (156)
57	1000G_HIGH_COVERAGE	ss5585499892	Oct 16, 2022 (156)
58	SANFORD_IMAGENETICS	ss5652114622	Oct 16, 2022 (156)
59	TOMMO_GENOMICS	ss5752459975	Oct 16, 2022 (156)
60	YY_MCH	ss5812794712	Oct 16, 2022 (156)
61	EVA	ss5837258756	Oct 16, 2022 (156)
62	EVA	ss5850159754	Oct 16, 2022 (156)
63	EVA	ss5921744543	Oct 16, 2022 (156)
64	EVA	ss5943446211	Oct 16, 2022 (156)
65	1000Genomes	NC_000011.9 - 114232733	Oct 12, 2018 (152)
66	1000Genomes_30x	NC_000011.10 - 114362011	Oct 16, 2022 (156)
67	The Avon Longitudinal Study of Parents and Children	NC_000011.9 - 114232733	Oct 12, 2018 (152)
68	Genetic variation in the Estonian population	NC_000011.9 - 114232733	Oct 12, 2018 (152)
69	The Danish reference pan genome	NC_000011.9 - 114232733	Apr 26, 2020 (154)
70	gnomAD - Genomes	NC_000011.10 - 114362011	Apr 26, 2021 (155)
71	Genome of the Netherlands Release 5	NC_000011.9 - 114232733	Apr 26, 2020 (154)
72	HapMap	NC_000011.10 - 114362011	Apr 26, 2020 (154)
73	KOREAN population from KRGDB	NC_000011.9 - 114232733	Apr 26, 2020 (154)
74	Korean Genome Project	NC_000011.10 - 114362011	Apr 26, 2020 (154)
75	Northern Sweden	NC_000011.9 - 114232733	Jul 13, 2019 (153)
76	Qatari	NC_000011.9 - 114232733	Apr 26, 2020 (154)
77	SGDP_PRJ	NC_000011.9 - 114232733	Apr 26, 2020 (154)
78	Siberian	NC_000011.9 - 114232733	Apr 26, 2020 (154)
79	8.3KJPN	NC_000011.9 - 114232733	Apr 26, 2021 (155)
80	14KJPN	NC_000011.10 - 114362011	Oct 16, 2022 (156)
81	TopMed	NC_000011.10 - 114362011	Apr 26, 2021 (155)
82	UK 10K study - Twins	NC_000011.9 - 114232733	Oct 12, 2018 (152)
83	A Vietnamese Genetic Variation Database	NC_000011.9 - 114232733	Jul 13, 2019 (153)
84	ALFA	NC_000011.10 - 114362011	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
ss119962130, ss210801771, ss281178971	NC_000011.8:113737942:A:C	NC_000011.10:114362010:A:C	(self)
55637052, 30883201, 21880459, 2744170, 13781702, 32817960, 11843306, 14388542, 29198120, 7746352, 61953954, 30883201, 6854194, ss225473161, ss235727531, ss242323976, ss537535232, ss562839352, ss658363058, ss988985232, ss1078061853, ss1343051764, ss1426767426, ss1575965574, ss1627509295, ss1670503328, ss1932346612, ss1967464214, ss2026917205, ss2155229998, ss2627933381, ss2632890100, ss2699540326, ss2904699110, ss3008814226, ss3349804797, ss3626754868, ss3637931695, ss3676142211, ss3738558441, ss3749838810, ss3832849723, ss3839987337, ss3877181140, ss3925640566, ss4017560216, ss5203984647, ss5510529261, ss5652114622, ss5837258756, ss5943446211	NC_000011.9:114232732:A:C	NC_000011.10:114362010:A:C	(self)
73025827, 392584439, 703961, 27168606, 86297079, 116274930, 8744376814, ss2185886320, ss3027259424, ss3649709540, ss3692640751, ss3815168587, ss3845469089, ss3970790605, ss4900729274, ss5288976604, ss5483958745, ss5585499892, ss5752459975, ss5812794712, ss5850159754, ss5921744543	NC_000011.10:114362010:A:C	NC_000011.10:114362010:A:C	(self)
ss12172920	NT_033899.5:17776411:A:C	NC_000011.10:114362010:A:C	(self)
ss15804009	NT_033899.6:17776519:A:C	NC_000011.10:114362010:A:C	(self)
ss40066134, ss97512887, ss103002501, ss142519489, ss156817856, ss174635621	NT_033899.8:17795148:A:C	NC_000011.10:114362010:A:C	(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 rs7951645

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

rs7951645