Name: rs7597758
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.

rs7597758

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:22398 (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: C>A / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.115104 (30467/264690, TOPMED)
T=0.108870 (15245/140030, GnomAD)
T=0.16940 (4787/28258, 14KJPN) (+ 14 more)
T=0.07035 (1329/18890, ALFA)
T=0.17208 (2884/16760, 8.3KJPN)
T=0.1510 (967/6404, 1000G_30x)
T=0.1496 (749/5008, 1000G)
T=0.0278 (107/3854, ALSPAC)
T=0.0262 (97/3708, TWINSUK)
T=0.2031 (595/2930, KOREAN)
T=0.030 (30/998, GoNL)
T=0.077 (46/600, NorthernSweden)
T=0.088 (19/216, Qatari)
T=0.179 (38/212, Vietnamese)
C=0.391 (61/156, SGDP_PRJ)
C=0.5 (4/8, Siberian)
T=0.5 (4/8, 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	18890	C=0.92965	T=0.07035
European	Sub	14286	C=0.96465	T=0.03535
African	Sub	2946	C=0.7671	T=0.2329
African Others	Sub	114	C=0.746	T=0.254
African American	Sub	2832	C=0.7680	T=0.2320
Asian	Sub	112	C=0.786	T=0.214
East Asian	Sub	86	C=0.79	T=0.21
Other Asian	Sub	26	C=0.77	T=0.23
Latin American 1	Sub	146	C=0.884	T=0.116
Latin American 2	Sub	610	C=0.943	T=0.057
South Asian	Sub	98	C=0.97	T=0.03
Other	Sub	692	C=0.915	T=0.085

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	C=0.884896	T=0.115104
gnomAD - Genomes	Global	Study-wide	140030	C=0.891130	T=0.108870
gnomAD - Genomes	European	Sub	75894	C=0.96641	T=0.03359
gnomAD - Genomes	African	Sub	41892	C=0.74988	T=0.25012
gnomAD - Genomes	American	Sub	13642	C=0.92230	T=0.07770
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	C=0.9060	T=0.0940
gnomAD - Genomes	East Asian	Sub	3128	C=0.8015	T=0.1985
gnomAD - Genomes	Other	Sub	2154	C=0.8955	T=0.1045
14KJPN	JAPANESE	Study-wide	28258	C=0.83060	T=0.16940
Allele Frequency Aggregator	Total	Global	18890	C=0.92965	T=0.07035
Allele Frequency Aggregator	European	Sub	14286	C=0.96465	T=0.03535
Allele Frequency Aggregator	African	Sub	2946	C=0.7671	T=0.2329
Allele Frequency Aggregator	Other	Sub	692	C=0.915	T=0.085
Allele Frequency Aggregator	Latin American 2	Sub	610	C=0.943	T=0.057
Allele Frequency Aggregator	Latin American 1	Sub	146	C=0.884	T=0.116
Allele Frequency Aggregator	Asian	Sub	112	C=0.786	T=0.214
Allele Frequency Aggregator	South Asian	Sub	98	C=0.97	T=0.03
8.3KJPN	JAPANESE	Study-wide	16760	C=0.82792	T=0.17208
1000Genomes_30x	Global	Study-wide	6404	C=0.8490	T=0.1510
1000Genomes_30x	African	Sub	1786	C=0.7004	T=0.2996
1000Genomes_30x	Europe	Sub	1266	C=0.9629	T=0.0371
1000Genomes_30x	South Asian	Sub	1202	C=0.9526	T=0.0474
1000Genomes_30x	East Asian	Sub	1170	C=0.8128	T=0.1872
1000Genomes_30x	American	Sub	980	C=0.889	T=0.111
1000Genomes	Global	Study-wide	5008	C=0.8504	T=0.1496
1000Genomes	African	Sub	1322	C=0.6974	T=0.3026
1000Genomes	East Asian	Sub	1008	C=0.8214	T=0.1786
1000Genomes	Europe	Sub	1006	C=0.9612	T=0.0388
1000Genomes	South Asian	Sub	978	C=0.949	T=0.051
1000Genomes	American	Sub	694	C=0.885	T=0.115
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.9722	T=0.0278
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.9738	T=0.0262
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.7969	A=0.0000, T=0.2031
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.970	T=0.030
Northern Sweden	ACPOP	Study-wide	600	C=0.923	T=0.077
Qatari	Global	Study-wide	216	C=0.912	T=0.088
A Vietnamese Genetic Variation Database	Global	Study-wide	212	C=0.821	T=0.179
SGDP_PRJ	Global	Study-wide	156	C=0.391	T=0.609
Siberian	Global	Study-wide	8	C=0.5	T=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 2	NC_000002.12:g.22398C>A
GRCh38.p14 chr 2	NC_000002.12:g.22398C>T
GRCh37.p13 chr 2	NC_000002.11:g.22398C>A
GRCh37.p13 chr 2	NC_000002.11:g.22398C>T

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	C=	A	T
GRCh38.p14 chr 2	NC_000002.12:g.22398=	NC_000002.12:g.22398C>A	NC_000002.12:g.22398C>T
GRCh37.p13 chr 2	NC_000002.11:g.22398=	NC_000002.11:g.22398C>A	NC_000002.11:g.22398C>T

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#.

45 SubSNP, 16 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss11507613	Jul 11, 2003 (116)
2	1000GENOMES	ss112137865	Jan 25, 2009 (130)
3	ILLUMINA-UK	ss117555080	Dec 01, 2009 (131)
4	COMPLETE_GENOMICS	ss162981171	Jul 04, 2010 (132)
5	BUSHMAN	ss199922969	Jul 04, 2010 (132)
6	1000GENOMES	ss219013237	Jul 14, 2010 (132)
7	1000GENOMES	ss238594171	Jul 15, 2010 (132)
8	GMI	ss276316759	May 04, 2012 (137)
9	TISHKOFF	ss555295651	Apr 25, 2013 (138)
10	SSMP	ss648872616	Apr 25, 2013 (138)
11	EVA-GONL	ss976396844	Aug 21, 2014 (142)
12	JMKIDD_LAB	ss1068790777	Aug 21, 2014 (142)
13	1000GENOMES	ss1295574554	Aug 21, 2014 (142)
14	EVA_DECODE	ss1585798244	Apr 01, 2015 (144)
15	EVA_UK10K_ALSPAC	ss1602626866	Apr 01, 2015 (144)
16	EVA_UK10K_TWINSUK	ss1645620899	Apr 01, 2015 (144)
17	HAMMER_LAB	ss1796107824	Sep 08, 2015 (146)
18	WEILL_CORNELL_DGM	ss1919623849	Feb 12, 2016 (147)
19	GENOMED	ss1968672417	Jul 19, 2016 (147)
20	JJLAB	ss2020339332	Sep 14, 2016 (149)
21	USC_VALOUEV	ss2148378546	Dec 20, 2016 (150)
22	GRF	ss2702930168	Nov 08, 2017 (151)
23	GNOMAD	ss2768815017	Nov 08, 2017 (151)
24	SWEGEN	ss2988841637	Nov 08, 2017 (151)
25	CSHL	ss3344030036	Nov 08, 2017 (151)
26	EVA_DECODE	ss3703083927	Jul 12, 2019 (153)
27	ACPOP	ss3728076157	Jul 12, 2019 (153)
28	EVA	ss3756245634	Jul 12, 2019 (153)
29	KHV_HUMAN_GENOMES	ss3800634345	Jul 12, 2019 (153)
30	EVA	ss3826772230	Apr 25, 2020 (154)
31	SGDP_PRJ	ss3851402848	Apr 25, 2020 (154)
32	KRGDB	ss3896770516	Apr 25, 2020 (154)
33	TOPMED	ss4491456731	Apr 25, 2021 (155)
34	TOMMO_GENOMICS	ss5149497082	Apr 25, 2021 (155)
35	1000G_HIGH_COVERAGE	ss5246618202	Oct 12, 2022 (156)
36	HUGCELL_USP	ss5446965116	Oct 12, 2022 (156)
37	EVA	ss5506268412	Oct 12, 2022 (156)
38	1000G_HIGH_COVERAGE	ss5521110317	Oct 12, 2022 (156)
39	SANFORD_IMAGENETICS	ss5627923518	Oct 12, 2022 (156)
40	TOMMO_GENOMICS	ss5677567592	Oct 12, 2022 (156)
41	YY_MCH	ss5801853358	Oct 12, 2022 (156)
42	EVA	ss5819540890	Oct 12, 2022 (156)
43	EVA	ss5852352032	Oct 12, 2022 (156)
44	EVA	ss5928688509	Oct 12, 2022 (156)
45	EVA	ss5954107718	Oct 12, 2022 (156)
46	1000Genomes	NC_000002.11 - 22398	Oct 11, 2018 (152)
47	1000Genomes_30x	NC_000002.12 - 22398	Oct 12, 2022 (156)
48	The Avon Longitudinal Study of Parents and Children	NC_000002.11 - 22398	Oct 11, 2018 (152)
49	gnomAD - Genomes	NC_000002.12 - 22398	Apr 25, 2021 (155)
50	Genome of the Netherlands Release 5	NC_000002.11 - 22398	Apr 25, 2020 (154)
51	KOREAN population from KRGDB	NC_000002.11 - 22398	Apr 25, 2020 (154)
52	Northern Sweden	NC_000002.11 - 22398	Jul 12, 2019 (153)
53	Qatari	NC_000002.11 - 22398	Apr 25, 2020 (154)
54	SGDP_PRJ	NC_000002.11 - 22398	Apr 25, 2020 (154)
55	Siberian	NC_000002.11 - 22398	Apr 25, 2020 (154)
56	8.3KJPN	NC_000002.11 - 22398	Apr 25, 2021 (155)
57	14KJPN	NC_000002.12 - 22398	Oct 12, 2022 (156)
58	TopMed	NC_000002.12 - 22398	Apr 25, 2021 (155)
59	UK 10K study - Twins	NC_000002.11 - 22398	Oct 11, 2018 (152)
60	A Vietnamese Genetic Variation Database	NC_000002.11 - 22398	Jul 12, 2019 (153)
61	ALFA	NC_000002.12 - 22398	Apr 25, 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
3947910, ss3896770516	NC_000002.11:22397:C:A	NC_000002.12:22397:C:A	(self)
ss112137865, ss117555080, ss162981171, ss199922969, ss276316759, ss1585798244	NC_000002.10:12397:C:T	NC_000002.12:22397:C:T	(self)
6464430, 3576955, 1572292, 3947910, 1361022, 1665779, 3419828, 894900, 7466389, 3576955, 780719, ss219013237, ss238594171, ss555295651, ss648872616, ss976396844, ss1068790777, ss1295574554, ss1602626866, ss1645620899, ss1796107824, ss1919623849, ss1968672417, ss2020339332, ss2148378546, ss2702930168, ss2768815017, ss2988841637, ss3344030036, ss3728076157, ss3756245634, ss3826772230, ss3851402848, ss3896770516, ss5149497082, ss5506268412, ss5627923518, ss5819540890, ss5954107718	NC_000002.11:22397:C:T	NC_000002.12:22397:C:T	(self)
8636252, 46150807, 11404696, 295279610, 3295982039, ss3703083927, ss3800634345, ss4491456731, ss5246618202, ss5446965116, ss5521110317, ss5677567592, ss5801853358, ss5852352032, ss5928688509	NC_000002.12:22397:C:T	NC_000002.12:22397:C:T	(self)
ss11507613	NT_022327.12:12397:C:T	NC_000002.12:22397:C:T	(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 rs7597758

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

rs7597758