Name: rs7585244
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.

rs7585244

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:29060643 (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>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.168019 (44473/264690, TOPMED)
T=0.166105 (23262/140044, GnomAD)
T=0.21783 (17143/78698, PAGE_STUDY) (+ 19 more)
T=0.10847 (3419/31520, ALFA)
T=0.12202 (3448/28258, 14KJPN)
T=0.11939 (2001/16760, 8.3KJPN)
T=0.1808 (1158/6404, 1000G_30x)
T=0.1777 (890/5008, 1000G)
T=0.0906 (406/4480, Estonian)
T=0.0649 (250/3854, ALSPAC)
T=0.0752 (279/3708, TWINSUK)
T=0.0792 (232/2930, KOREAN)
T=0.0841 (154/1832, Korea1K)
T=0.069 (69/998, GoNL)
T=0.027 (16/600, NorthernSweden)
T=0.134 (29/216, Qatari)
T=0.070 (15/214, Vietnamese)
C=0.411 (46/112, SGDP_PRJ)
T=0.07 (3/40, GENOME_DK)
T=0.00 (0/18, Ancient Sardinia)
C=0.5 (1/2, Siberian)
T=0.5 (1/2, 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	31520	C=0.89153	T=0.10847
European	Sub	24808	C=0.92930	T=0.07070
African	Sub	3602	C=0.6177	T=0.3823
African Others	Sub	124	C=0.556	T=0.444
African American	Sub	3478	C=0.6199	T=0.3801
Asian	Sub	162	C=0.914	T=0.086
East Asian	Sub	134	C=0.903	T=0.097
Other Asian	Sub	28	C=0.96	T=0.04
Latin American 1	Sub	168	C=0.845	T=0.155
Latin American 2	Sub	700	C=0.950	T=0.050
South Asian	Sub	120	C=0.883	T=0.117
Other	Sub	1960	C=0.8985	T=0.1015

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=0.831981	T=0.168019
gnomAD - Genomes	Global	Study-wide	140044	C=0.833895	T=0.166105
gnomAD - Genomes	European	Sub	75884	C=0.92691	T=0.07309
gnomAD - Genomes	African	Sub	41918	C=0.62162	T=0.37838
gnomAD - Genomes	American	Sub	13646	C=0.91375	T=0.08625
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	C=0.9642	T=0.0358
gnomAD - Genomes	East Asian	Sub	3132	C=0.9186	T=0.0814
gnomAD - Genomes	Other	Sub	2144	C=0.8582	T=0.1418
The PAGE Study	Global	Study-wide	78698	C=0.78217	T=0.21783
The PAGE Study	AfricanAmerican	Sub	32514	C=0.62631	T=0.37369
The PAGE Study	Mexican	Sub	10810	C=0.95116	T=0.04884
The PAGE Study	Asian	Sub	8318	C=0.8913	T=0.1087
The PAGE Study	PuertoRican	Sub	7918	C=0.8443	T=0.1557
The PAGE Study	NativeHawaiian	Sub	4534	C=0.8946	T=0.1054
The PAGE Study	Cuban	Sub	4228	C=0.8784	T=0.1216
The PAGE Study	Dominican	Sub	3828	C=0.7900	T=0.2100
The PAGE Study	CentralAmerican	Sub	2450	C=0.9147	T=0.0853
The PAGE Study	SouthAmerican	Sub	1982	C=0.9450	T=0.0550
The PAGE Study	NativeAmerican	Sub	1260	C=0.9000	T=0.1000
The PAGE Study	SouthAsian	Sub	856	C=0.897	T=0.103
Allele Frequency Aggregator	Total	Global	31520	C=0.89153	T=0.10847
Allele Frequency Aggregator	European	Sub	24808	C=0.92930	T=0.07070
Allele Frequency Aggregator	African	Sub	3602	C=0.6177	T=0.3823
Allele Frequency Aggregator	Other	Sub	1960	C=0.8985	T=0.1015
Allele Frequency Aggregator	Latin American 2	Sub	700	C=0.950	T=0.050
Allele Frequency Aggregator	Latin American 1	Sub	168	C=0.845	T=0.155
Allele Frequency Aggregator	Asian	Sub	162	C=0.914	T=0.086
Allele Frequency Aggregator	South Asian	Sub	120	C=0.883	T=0.117
14KJPN	JAPANESE	Study-wide	28258	C=0.87798	T=0.12202
8.3KJPN	JAPANESE	Study-wide	16760	C=0.88061	T=0.11939
1000Genomes_30x	Global	Study-wide	6404	C=0.8192	T=0.1808
1000Genomes_30x	African	Sub	1786	C=0.5610	T=0.4390
1000Genomes_30x	Europe	Sub	1266	C=0.9400	T=0.0600
1000Genomes_30x	South Asian	Sub	1202	C=0.9052	T=0.0948
1000Genomes_30x	East Asian	Sub	1170	C=0.9026	T=0.0974
1000Genomes_30x	American	Sub	980	C=0.929	T=0.071
1000Genomes	Global	Study-wide	5008	C=0.8223	T=0.1777
1000Genomes	African	Sub	1322	C=0.5530	T=0.4470
1000Genomes	East Asian	Sub	1008	C=0.9058	T=0.0942
1000Genomes	Europe	Sub	1006	C=0.9394	T=0.0606
1000Genomes	South Asian	Sub	978	C=0.905	T=0.095
1000Genomes	American	Sub	694	C=0.928	T=0.072
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.9094	T=0.0906
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.9351	T=0.0649
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.9248	T=0.0752
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.9208	G=0.0000, T=0.0792
Korean Genome Project	KOREAN	Study-wide	1832	C=0.9159	T=0.0841
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.931	T=0.069
Northern Sweden	ACPOP	Study-wide	600	C=0.973	T=0.027
Qatari	Global	Study-wide	216	C=0.866	T=0.134
A Vietnamese Genetic Variation Database	Global	Study-wide	214	C=0.930	T=0.070
SGDP_PRJ	Global	Study-wide	112	C=0.411	T=0.589
The Danish reference pan genome	Danish	Study-wide	40	C=0.93	T=0.07
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	18	C=1.00	T=0.00
Siberian	Global	Study-wide	2	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.29060643C>G
GRCh38.p14 chr 2	NC_000002.12:g.29060643C>T
GRCh37.p13 chr 2	NC_000002.11:g.29283509C>G
GRCh37.p13 chr 2	NC_000002.11:g.29283509C>T
PCARE RefSeqGene	NG_021427.1:g.18619G>C
PCARE RefSeqGene	NG_021427.1:g.18619G>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	C=	G	T
GRCh38.p14 chr 2	NC_000002.12:g.29060643=	NC_000002.12:g.29060643C>G	NC_000002.12:g.29060643C>T
GRCh37.p13 chr 2	NC_000002.11:g.29283509=	NC_000002.11:g.29283509C>G	NC_000002.11:g.29283509C>T
PCARE RefSeqGene	NG_021427.1:g.18619=	NG_021427.1:g.18619G>C	NG_021427.1:g.18619G>A
TOGARAM2 transcript variant 1	NM_199280.3:c.*8550=	NM_199280.3:c.*8550C>G	NM_199280.3:c.*8550C>T
TOGARAM2 transcript variant 2	NM_001321538.2:c.*8550=	NM_001321538.2:c.*8550C>G	NM_001321538.2:c.*8550C>T
TOGARAM2 transcript variant 3	NM_001321539.2:c.*8550=	NM_001321539.2:c.*8550C>G	NM_001321539.2:c.*8550C>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#.

78 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss11484644	Jul 11, 2003 (116)
2	HGSV	ss81016752	Dec 14, 2007 (130)
3	HGSV	ss85192542	Dec 14, 2007 (130)
4	1000GENOMES	ss110000390	Jan 24, 2009 (130)
5	ILLUMINA-UK	ss117636338	Feb 14, 2009 (130)
6	COMPLETE_GENOMICS	ss163231248	Jul 04, 2010 (132)
7	COMPLETE_GENOMICS	ss166333608	Jul 04, 2010 (132)
8	BUSHMAN	ss200205408	Jul 04, 2010 (132)
9	1000GENOMES	ss219139309	Jul 14, 2010 (132)
10	1000GENOMES	ss231090191	Jul 14, 2010 (132)
11	1000GENOMES	ss238662770	Jul 15, 2010 (132)
12	GMI	ss276398230	May 04, 2012 (137)
13	PJP	ss292533981	May 09, 2011 (134)
14	ILLUMINA	ss483682741	May 04, 2012 (137)
15	ILLUMINA	ss484060298	May 04, 2012 (137)
16	ILLUMINA	ss535884977	Sep 08, 2015 (146)
17	TISHKOFF	ss555439390	Apr 25, 2013 (138)
18	SSMP	ss649019759	Apr 25, 2013 (138)
19	ILLUMINA	ss780369275	Sep 08, 2015 (146)
20	ILLUMINA	ss782284848	Sep 08, 2015 (146)
21	ILLUMINA	ss835857405	Sep 08, 2015 (146)
22	EVA-GONL	ss976625534	Aug 21, 2014 (142)
23	JMKIDD_LAB	ss1068960285	Aug 21, 2014 (142)
24	1000GENOMES	ss1296439809	Aug 21, 2014 (142)
25	EVA_GENOME_DK	ss1578794641	Apr 01, 2015 (144)
26	EVA_DECODE	ss1586031202	Apr 01, 2015 (144)
27	EVA_UK10K_ALSPAC	ss1603091428	Apr 01, 2015 (144)
28	EVA_UK10K_TWINSUK	ss1646085461	Apr 01, 2015 (144)
29	HAMMER_LAB	ss1796469495	Sep 08, 2015 (146)
30	WEILL_CORNELL_DGM	ss1919857718	Feb 12, 2016 (147)
31	ILLUMINA	ss1958401699	Feb 12, 2016 (147)
32	JJLAB	ss2020457346	Sep 14, 2016 (149)
33	USC_VALOUEV	ss2148502072	Dec 20, 2016 (150)
34	HUMAN_LONGEVITY	ss2228621387	Dec 20, 2016 (150)
35	ILLUMINA	ss2633588892	Nov 08, 2017 (151)
36	GRF	ss2703063086	Nov 08, 2017 (151)
37	GNOMAD	ss2771227018	Nov 08, 2017 (151)
38	SWEGEN	ss2989190423	Nov 08, 2017 (151)
39	ILLUMINA	ss3021954076	Nov 08, 2017 (151)
40	BIOINF_KMB_FNS_UNIBA	ss3023995108	Nov 08, 2017 (151)
41	CSHL	ss3344135137	Nov 08, 2017 (151)
42	ILLUMINA	ss3628021380	Oct 11, 2018 (152)
43	ILLUMINA	ss3631557330	Oct 11, 2018 (152)
44	ILLUMINA	ss3642084176	Oct 11, 2018 (152)
45	ILLUMINA	ss3652383484	Oct 11, 2018 (152)
46	EGCUT_WGS	ss3657145483	Jul 13, 2019 (153)
47	EVA_DECODE	ss3703511040	Jul 13, 2019 (153)
48	ILLUMINA	ss3725769410	Jul 13, 2019 (153)
49	ACPOP	ss3728265901	Jul 13, 2019 (153)
50	EVA	ss3756516922	Jul 13, 2019 (153)
51	PAGE_CC	ss3770906360	Jul 13, 2019 (153)
52	KHV_HUMAN_GENOMES	ss3800896183	Jul 13, 2019 (153)
53	EVA	ss3826886141	Apr 25, 2020 (154)
54	EVA	ss3836850374	Apr 25, 2020 (154)
55	EVA	ss3842265041	Apr 25, 2020 (154)
56	SGDP_PRJ	ss3851865077	Apr 25, 2020 (154)
57	KRGDB	ss3897282768	Apr 25, 2020 (154)
58	KOGIC	ss3947377354	Apr 25, 2020 (154)
59	EVA	ss3984881339	Apr 26, 2021 (155)
60	TOPMED	ss4498762624	Apr 26, 2021 (155)
61	TOMMO_GENOMICS	ss5150469906	Apr 26, 2021 (155)
62	EVA	ss5237290665	Apr 26, 2021 (155)
63	1000G_HIGH_COVERAGE	ss5247376798	Oct 17, 2022 (156)
64	EVA	ss5314719986	Oct 17, 2022 (156)
65	EVA	ss5327664487	Oct 17, 2022 (156)
66	HUGCELL_USP	ss5447643030	Oct 17, 2022 (156)
67	1000G_HIGH_COVERAGE	ss5522234902	Oct 17, 2022 (156)
68	SANFORD_IMAGENETICS	ss5624440071	Oct 17, 2022 (156)
69	SANFORD_IMAGENETICS	ss5628353746	Oct 17, 2022 (156)
70	TOMMO_GENOMICS	ss5678837449	Oct 17, 2022 (156)
71	YY_MCH	ss5802037414	Oct 17, 2022 (156)
72	EVA	ss5819833768	Oct 17, 2022 (156)
73	EVA	ss5847184271	Oct 17, 2022 (156)
74	EVA	ss5847861254	Oct 17, 2022 (156)
75	EVA	ss5852443667	Oct 17, 2022 (156)
76	EVA	ss5929563896	Oct 17, 2022 (156)
77	EVA	ss5954557538	Oct 17, 2022 (156)
78	EVA	ss5979560700	Oct 17, 2022 (156)
79	1000Genomes	NC_000002.11 - 29283509	Oct 11, 2018 (152)
80	1000Genomes_30x	NC_000002.12 - 29060643	Oct 17, 2022 (156)
81	The Avon Longitudinal Study of Parents and Children	NC_000002.11 - 29283509	Oct 11, 2018 (152)
82	Genetic variation in the Estonian population	NC_000002.11 - 29283509	Oct 11, 2018 (152)
83	The Danish reference pan genome	NC_000002.11 - 29283509	Apr 25, 2020 (154)
84	gnomAD - Genomes	NC_000002.12 - 29060643	Apr 26, 2021 (155)
85	Genome of the Netherlands Release 5	NC_000002.11 - 29283509	Apr 25, 2020 (154)
86	KOREAN population from KRGDB	NC_000002.11 - 29283509	Apr 25, 2020 (154)
87	Korean Genome Project	NC_000002.12 - 29060643	Apr 25, 2020 (154)
88	Northern Sweden	NC_000002.11 - 29283509	Jul 13, 2019 (153)
89	The PAGE Study	NC_000002.12 - 29060643	Jul 13, 2019 (153)
90	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000002.11 - 29283509	Apr 26, 2021 (155)
91	Qatari	NC_000002.11 - 29283509	Apr 25, 2020 (154)
92	SGDP_PRJ	NC_000002.11 - 29283509	Apr 25, 2020 (154)
93	Siberian	NC_000002.11 - 29283509	Apr 25, 2020 (154)
94	8.3KJPN	NC_000002.11 - 29283509	Apr 26, 2021 (155)
95	14KJPN	NC_000002.12 - 29060643	Oct 17, 2022 (156)
96	TopMed	NC_000002.12 - 29060643	Apr 26, 2021 (155)
97	UK 10K study - Twins	NC_000002.11 - 29283509	Oct 11, 2018 (152)
98	A Vietnamese Genetic Variation Database	NC_000002.11 - 29283509	Jul 13, 2019 (153)
99	ALFA	NC_000002.12 - 29060643	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)
rs57977735	May 24, 2008 (130)
rs386491089	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
4460162, ss3897282768	NC_000002.11:29283508:C:G	NC_000002.12:29060642:C:G	(self)
ss81016752, ss85192542	NC_000002.9:29195159:C:T	NC_000002.12:29060642:C:T	(self)
ss110000390, ss117636338, ss163231248, ss166333608, ss200205408, ss276398230, ss292533981, ss484060298, ss1586031202	NC_000002.10:29137012:C:T	NC_000002.12:29060642:C:T	(self)
7359786, 4085857, 2883731, 4970548, 1794464, 4460162, 1550766, 107266, 1899648, 3882057, 1018426, 8439213, 4085857, 889499, ss219139309, ss231090191, ss238662770, ss483682741, ss535884977, ss555439390, ss649019759, ss780369275, ss782284848, ss835857405, ss976625534, ss1068960285, ss1296439809, ss1578794641, ss1603091428, ss1646085461, ss1796469495, ss1919857718, ss1958401699, ss2020457346, ss2148502072, ss2633588892, ss2703063086, ss2771227018, ss2989190423, ss3021954076, ss3344135137, ss3628021380, ss3631557330, ss3642084176, ss3652383484, ss3657145483, ss3728265901, ss3756516922, ss3826886141, ss3836850374, ss3851865077, ss3897282768, ss3984881339, ss5150469906, ss5237290665, ss5314719986, ss5327664487, ss5624440071, ss5628353746, ss5819833768, ss5847184271, ss5847861254, ss5954557538, ss5979560700	NC_000002.11:29283508:C:T	NC_000002.12:29060642:C:T	(self)
9760837, 52302647, 3755355, 127829, 12674553, 302585503, 1797827126, ss2228621387, ss3023995108, ss3703511040, ss3725769410, ss3770906360, ss3800896183, ss3842265041, ss3947377354, ss4498762624, ss5247376798, ss5447643030, ss5522234902, ss5678837449, ss5802037414, ss5852443667, ss5929563896	NC_000002.12:29060642:C:T	NC_000002.12:29060642:C:T	(self)
ss11484644	NT_022184.12:8099441:C:T	NC_000002.12:29060642: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 rs7585244

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

rs7585244