Name: rs7946268
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.

rs7946268

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:12426055 (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>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.488084 (129191/264690, TOPMED)
G=0.486688 (68110/139946, GnomAD)
G=0.444521 (50703/114062, ALFA) (+ 17 more)
G=0.45339 (12812/28258, 14KJPN)
G=0.45369 (7603/16758, 8.3KJPN)
G=0.4600 (2946/6404, 1000G_30x)
G=0.4575 (2291/5008, 1000G)
G=0.4464 (2000/4480, Estonian)
G=0.4471 (1723/3854, ALSPAC)
G=0.4296 (1593/3708, TWINSUK)
G=0.4444 (1302/2930, KOREAN)
G=0.448 (447/998, GoNL)
G=0.452 (271/600, NorthernSweden)
A=0.332 (117/352, SGDP_PRJ)
G=0.488 (159/326, HapMap)
G=0.435 (94/216, Qatari)
A=0.396 (84/212, Vietnamese)
G=0.44 (42/96, Ancient Sardinia)
G=0.47 (19/40, GENOME_DK)
A=0.36 (13/36, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: PARVA : Intron 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	114062	A=0.555479	G=0.444521
European	Sub	104308	A=0.561405	G=0.438595
African	Sub	3512	A=0.4203	G=0.5797
African Others	Sub	142	A=0.415	G=0.585
African American	Sub	3370	A=0.4205	G=0.5795
Asian	Sub	294	A=0.466	G=0.534
East Asian	Sub	202	A=0.441	G=0.559
Other Asian	Sub	92	A=0.52	G=0.48
Latin American 1	Sub	306	A=0.621	G=0.379
Latin American 2	Sub	1968	A=0.5056	G=0.4944
South Asian	Sub	120	A=0.700	G=0.300
Other	Sub	3554	A=0.5397	G=0.4603

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=0.511916	G=0.488084
gnomAD - Genomes	Global	Study-wide	139946	A=0.513312	G=0.486688
gnomAD - Genomes	European	Sub	75830	A=0.55305	G=0.44695
gnomAD - Genomes	African	Sub	41874	A=0.42427	G=0.57573
gnomAD - Genomes	American	Sub	13638	A=0.54223	G=0.45777
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	A=0.6279	G=0.3721
gnomAD - Genomes	East Asian	Sub	3130	A=0.4837	G=0.5163
gnomAD - Genomes	Other	Sub	2150	A=0.5284	G=0.4716
Allele Frequency Aggregator	Total	Global	114062	A=0.555479	G=0.444521
Allele Frequency Aggregator	European	Sub	104308	A=0.561405	G=0.438595
Allele Frequency Aggregator	Other	Sub	3554	A=0.5397	G=0.4603
Allele Frequency Aggregator	African	Sub	3512	A=0.4203	G=0.5797
Allele Frequency Aggregator	Latin American 2	Sub	1968	A=0.5056	G=0.4944
Allele Frequency Aggregator	Latin American 1	Sub	306	A=0.621	G=0.379
Allele Frequency Aggregator	Asian	Sub	294	A=0.466	G=0.534
Allele Frequency Aggregator	South Asian	Sub	120	A=0.700	G=0.300
14KJPN	JAPANESE	Study-wide	28258	A=0.54661	G=0.45339
8.3KJPN	JAPANESE	Study-wide	16758	A=0.54631	G=0.45369
1000Genomes_30x	Global	Study-wide	6404	A=0.5400	G=0.4600
1000Genomes_30x	African	Sub	1786	A=0.3947	G=0.6053
1000Genomes_30x	Europe	Sub	1266	A=0.5545	G=0.4455
1000Genomes_30x	South Asian	Sub	1202	A=0.7421	G=0.2579
1000Genomes_30x	East Asian	Sub	1170	A=0.5103	G=0.4897
1000Genomes_30x	American	Sub	980	A=0.573	G=0.427
1000Genomes	Global	Study-wide	5008	A=0.5425	G=0.4575
1000Genomes	African	Sub	1322	A=0.4032	G=0.5968
1000Genomes	East Asian	Sub	1008	A=0.5099	G=0.4901
1000Genomes	Europe	Sub	1006	A=0.5537	G=0.4463
1000Genomes	South Asian	Sub	978	A=0.733	G=0.267
1000Genomes	American	Sub	694	A=0.571	G=0.429
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.5536	G=0.4464
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.5529	G=0.4471
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.5704	G=0.4296
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.5556	G=0.4444
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.552	G=0.448
Northern Sweden	ACPOP	Study-wide	600	A=0.548	G=0.452
SGDP_PRJ	Global	Study-wide	352	A=0.332	G=0.668
HapMap	Global	Study-wide	326	A=0.512	G=0.488
HapMap	American	Sub	120	A=0.558	G=0.442
HapMap	African	Sub	118	A=0.407	G=0.593
HapMap	Asian	Sub	88	A=0.59	G=0.41
Qatari	Global	Study-wide	216	A=0.565	G=0.435
A Vietnamese Genetic Variation Database	Global	Study-wide	212	A=0.396	G=0.604
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	96	A=0.56	G=0.44
The Danish reference pan genome	Danish	Study-wide	40	A=0.53	G=0.47
Siberian	Global	Study-wide	36	A=0.36	G=0.64

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.12426055A>G
GRCh37.p13 chr 11	NC_000011.9:g.12447602A>G

Gene: PARVA, parvin alpha (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PARVA transcript	NM_018222.5:c.137-47690A>G	N/A	Intron Variant
PARVA transcript variant X1	XM_005253015.4:c.5-47690A… XM_005253015.4:c.5-47690A>G	N/A	Intron 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=	G
GRCh38.p14 chr 11	NC_000011.10:g.12426055=	NC_000011.10:g.12426055A>G
GRCh37.p13 chr 11	NC_000011.9:g.12447602=	NC_000011.9:g.12447602A>G
PARVA transcript	NM_018222.4:c.257-47690=	NM_018222.4:c.257-47690A>G
PARVA transcript	NM_018222.5:c.137-47690=	NM_018222.5:c.137-47690A>G
PARVA transcript variant X1	XM_005253015.1:c.5-47690=	XM_005253015.1:c.5-47690A>G
PARVA transcript variant X1	XM_005253015.4:c.5-47690=	XM_005253015.4:c.5-47690A>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#.

98 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss12162166	Jul 11, 2003 (116)
2	SC_SNP	ss15489513	Feb 27, 2004 (120)
3	SSAHASNP	ss20736340	Apr 05, 2004 (121)
4	ABI	ss39963890	Mar 13, 2006 (126)
5	HGSV	ss78037380	Dec 06, 2007 (129)
6	HGSV	ss78507951	Dec 06, 2007 (129)
7	HGSV	ss84184099	Dec 15, 2007 (130)
8	BCMHGSC_JDW	ss88469921	Mar 23, 2008 (129)
9	HUMANGENOME_JCVI	ss97363456	Feb 06, 2009 (130)
10	BGI	ss106722106	Feb 06, 2009 (130)
11	1000GENOMES	ss110031193	Jan 24, 2009 (130)
12	1000GENOMES	ss114220341	Jan 25, 2009 (130)
13	ENSEMBL	ss132301946	Dec 01, 2009 (131)
14	ENSEMBL	ss137824977	Dec 01, 2009 (131)
15	GMI	ss155941101	Dec 01, 2009 (131)
16	COMPLETE_GENOMICS	ss167848177	Jul 04, 2010 (132)
17	COMPLETE_GENOMICS	ss169112533	Jul 04, 2010 (132)
18	COMPLETE_GENOMICS	ss170506385	Jul 04, 2010 (132)
19	BUSHMAN	ss202414436	Jul 04, 2010 (132)
20	1000GENOMES	ss225098579	Jul 14, 2010 (132)
21	1000GENOMES	ss235451799	Jul 15, 2010 (132)
22	1000GENOMES	ss242104051	Jul 15, 2010 (132)
23	BL	ss254901864	May 09, 2011 (134)
24	GMI	ss280889596	May 04, 2012 (137)
25	PJP	ss291180994	May 09, 2011 (134)
26	ILLUMINA	ss481727496	May 04, 2012 (137)
27	ILLUMINA	ss481759000	May 04, 2012 (137)
28	ILLUMINA	ss485658485	May 04, 2012 (137)
29	ILLUMINA	ss537534526	Sep 08, 2015 (146)
30	TISHKOFF	ss562393934	Apr 25, 2013 (138)
31	SSMP	ss657787998	Apr 25, 2013 (138)
32	ILLUMINA	ss778620669	Sep 08, 2015 (146)
33	ILLUMINA	ss783274806	Sep 08, 2015 (146)
34	ILLUMINA	ss784227918	Sep 08, 2015 (146)
35	ILLUMINA	ss832535878	Sep 08, 2015 (146)
36	ILLUMINA	ss834078169	Sep 08, 2015 (146)
37	EVA-GONL	ss988221890	Aug 21, 2014 (142)
38	JMKIDD_LAB	ss1077511229	Aug 21, 2014 (142)
39	1000GENOMES	ss1340160707	Aug 21, 2014 (142)
40	DDI	ss1426540776	Apr 01, 2015 (144)
41	EVA_GENOME_DK	ss1575531083	Apr 01, 2015 (144)
42	EVA_UK10K_ALSPAC	ss1626013438	Apr 01, 2015 (144)
43	EVA_UK10K_TWINSUK	ss1669007471	Apr 01, 2015 (144)
44	ILLUMINA	ss1752001112	Sep 08, 2015 (146)
45	HAMMER_LAB	ss1806699256	Sep 08, 2015 (146)
46	WEILL_CORNELL_DGM	ss1931585115	Feb 12, 2016 (147)
47	GENOMED	ss1967295376	Jul 19, 2016 (147)
48	JJLAB	ss2026535957	Sep 14, 2016 (149)
49	USC_VALOUEV	ss2154823082	Dec 20, 2016 (150)
50	HUMAN_LONGEVITY	ss2180275436	Dec 20, 2016 (150)
51	SYSTEMSBIOZJU	ss2627737512	Nov 08, 2017 (151)
52	ILLUMINA	ss2632803358	Nov 08, 2017 (151)
53	GRF	ss2699095098	Nov 08, 2017 (151)
54	GNOMAD	ss2896448830	Nov 08, 2017 (151)
55	SWEGEN	ss3007617158	Nov 08, 2017 (151)
56	BIOINF_KMB_FNS_UNIBA	ss3027063186	Nov 08, 2017 (151)
57	CSHL	ss3349460021	Nov 08, 2017 (151)
58	ILLUMINA	ss3626603745	Oct 12, 2018 (152)
59	ILLUMINA	ss3630822461	Oct 12, 2018 (152)
60	ILLUMINA	ss3632976264	Oct 12, 2018 (152)
61	ILLUMINA	ss3633675015	Oct 12, 2018 (152)
62	ILLUMINA	ss3634441673	Oct 12, 2018 (152)
63	ILLUMINA	ss3635366881	Oct 12, 2018 (152)
64	ILLUMINA	ss3637117680	Oct 12, 2018 (152)
65	ILLUMINA	ss3640149012	Oct 12, 2018 (152)
66	URBANLAB	ss3649536509	Oct 12, 2018 (152)
67	EGCUT_WGS	ss3675014780	Jul 13, 2019 (153)
68	EVA_DECODE	ss3691237294	Jul 13, 2019 (153)
69	ACPOP	ss3737931681	Jul 13, 2019 (153)
70	ILLUMINA	ss3744742585	Jul 13, 2019 (153)
71	EVA	ss3748957250	Jul 13, 2019 (153)
72	ILLUMINA	ss3772242673	Jul 13, 2019 (153)
73	PACBIO	ss3786870754	Jul 13, 2019 (153)
74	PACBIO	ss3792023857	Jul 13, 2019 (153)
75	PACBIO	ss3796905896	Jul 13, 2019 (153)
76	KHV_HUMAN_GENOMES	ss3814306250	Jul 13, 2019 (153)
77	EVA	ss3832485637	Apr 26, 2020 (154)
78	EVA	ss3839789786	Apr 26, 2020 (154)
79	EVA	ss3845266313	Apr 26, 2020 (154)
80	SGDP_PRJ	ss3875670092	Apr 26, 2020 (154)
81	KRGDB	ss3923901296	Apr 26, 2020 (154)
82	EVA	ss3985519146	Apr 26, 2021 (155)
83	EVA	ss4017524181	Apr 26, 2021 (155)
84	TOPMED	ss4875547933	Apr 26, 2021 (155)
85	TOMMO_GENOMICS	ss5200730770	Apr 26, 2021 (155)
86	1000G_HIGH_COVERAGE	ss5286441953	Oct 16, 2022 (156)
87	EVA	ss5315528249	Oct 16, 2022 (156)
88	EVA	ss5397808302	Oct 16, 2022 (156)
89	HUGCELL_USP	ss5481741477	Oct 16, 2022 (156)
90	EVA	ss5510255119	Oct 16, 2022 (156)
91	1000G_HIGH_COVERAGE	ss5581581196	Oct 16, 2022 (156)
92	SANFORD_IMAGENETICS	ss5650660226	Oct 16, 2022 (156)
93	TOMMO_GENOMICS	ss5747498035	Oct 16, 2022 (156)
94	YY_MCH	ss5812139047	Oct 16, 2022 (156)
95	EVA	ss5836279073	Oct 16, 2022 (156)
96	EVA	ss5849864018	Oct 16, 2022 (156)
97	EVA	ss5918873529	Oct 16, 2022 (156)
98	EVA	ss5941966329	Oct 16, 2022 (156)
99	1000Genomes	NC_000011.9 - 12447602	Oct 12, 2018 (152)
100	1000Genomes_30x	NC_000011.10 - 12426055	Oct 16, 2022 (156)
101	The Avon Longitudinal Study of Parents and Children	NC_000011.9 - 12447602	Oct 12, 2018 (152)
102	Genetic variation in the Estonian population	NC_000011.9 - 12447602	Oct 12, 2018 (152)
103	The Danish reference pan genome	NC_000011.9 - 12447602	Apr 26, 2020 (154)
104	gnomAD - Genomes	NC_000011.10 - 12426055	Apr 26, 2021 (155)
105	Genome of the Netherlands Release 5	NC_000011.9 - 12447602	Apr 26, 2020 (154)
106	HapMap	NC_000011.10 - 12426055	Apr 26, 2020 (154)
107	KOREAN population from KRGDB	NC_000011.9 - 12447602	Apr 26, 2020 (154)
108	Northern Sweden	NC_000011.9 - 12447602	Jul 13, 2019 (153)
109	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000011.9 - 12447602	Apr 26, 2021 (155)
110	Qatari	NC_000011.9 - 12447602	Apr 26, 2020 (154)
111	SGDP_PRJ	NC_000011.9 - 12447602	Apr 26, 2020 (154)
112	Siberian	NC_000011.9 - 12447602	Apr 26, 2020 (154)
113	8.3KJPN	NC_000011.9 - 12447602	Apr 26, 2021 (155)
114	14KJPN	NC_000011.10 - 12426055	Oct 16, 2022 (156)
115	TopMed	NC_000011.10 - 12426055	Apr 26, 2021 (155)
116	UK 10K study - Twins	NC_000011.9 - 12447602	Oct 12, 2018 (152)
117	A Vietnamese Genetic Variation Database	NC_000011.9 - 12447602	Jul 13, 2019 (153)
118	ALFA	NC_000011.10 - 12426055	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)
rs60149317	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss78037380, ss78507951, ss84184099, ss88469921, ss110031193, ss114220341, ss167848177, ss169112533, ss170506385, ss202414436, ss254901864, ss280889596, ss291180994, ss481727496	NC_000011.8:12404177:A:G	NC_000011.10:12426054:A:G	(self)
52645033, 29242422, 20753028, 2448784, 13040465, 31078690, 11216546, 745073, 13627045, 27687072, 7339436, 58700077, 29242422, 6492322, ss225098579, ss235451799, ss242104051, ss481759000, ss485658485, ss537534526, ss562393934, ss657787998, ss778620669, ss783274806, ss784227918, ss832535878, ss834078169, ss988221890, ss1077511229, ss1340160707, ss1426540776, ss1575531083, ss1626013438, ss1669007471, ss1752001112, ss1806699256, ss1931585115, ss1967295376, ss2026535957, ss2154823082, ss2627737512, ss2632803358, ss2699095098, ss2896448830, ss3007617158, ss3349460021, ss3626603745, ss3630822461, ss3632976264, ss3633675015, ss3634441673, ss3635366881, ss3637117680, ss3640149012, ss3675014780, ss3737931681, ss3744742585, ss3748957250, ss3772242673, ss3786870754, ss3792023857, ss3796905896, ss3832485637, ss3839789786, ss3875670092, ss3923901296, ss3985519146, ss4017524181, ss5200730770, ss5315528249, ss5397808302, ss5510255119, ss5650660226, ss5836279073, ss5941966329	NC_000011.9:12447601:A:G	NC_000011.10:12426054:A:G	(self)
69107131, 371648749, 552129, 81335139, 91093589, 8225239021, ss2180275436, ss3027063186, ss3649536509, ss3691237294, ss3814306250, ss3845266313, ss4875547933, ss5286441953, ss5481741477, ss5581581196, ss5747498035, ss5812139047, ss5849864018, ss5918873529	NC_000011.10:12426054:A:G	NC_000011.10:12426054:A:G	(self)
ss12162166	NT_009237.15:3848705:A:G	NC_000011.10:12426054:A:G	(self)
ss15489513, ss20736340	NT_009237.16:11211541:A:G	NC_000011.10:12426054:A:G	(self)
ss39963890, ss97363456, ss106722106, ss132301946, ss137824977, ss155941101	NT_009237.18:12387601:A:G	NC_000011.10:12426054:A: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 rs7946268

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

rs7946268