Name: rs7349072
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.

rs7349072

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:242862129 (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 / A>G / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.475069 (125746/264690, TOPMED)
A=0.487867 (68236/139866, GnomAD)
A=0.23245 (6568/28256, 14KJPN) (+ 16 more)
T=0.49199 (8848/17984, ALFA)
A=0.22965 (3849/16760, 8.3KJPN)
A=0.4069 (2606/6404, 1000G_30x)
A=0.3994 (2000/5008, 1000G)
T=0.4984 (2233/4480, Estonian)
T=0.4637 (1787/3854, ALSPAC)
T=0.4744 (1759/3708, TWINSUK)
A=0.2137 (626/2930, KOREAN)
A=0.2085 (382/1832, Korea1K)
A=0.499 (498/998, GoNL)
A=0.473 (284/600, NorthernSweden)
A=0.237 (112/472, SGDP_PRJ)
T=0.463 (100/216, Qatari)
A=0.195 (41/210, Vietnamese)
T=0.47 (19/40, GENOME_DK)
A=0.34 (13/38, 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	17984	A=0.50801	C=0.00000, T=0.49199
European	Sub	13796	A=0.53052	C=0.00000, T=0.46948
African	Sub	2534	A=0.4601	C=0.0000, T=0.5399
African Others	Sub	94	A=0.44	C=0.00, T=0.56
African American	Sub	2440	A=0.4611	C=0.0000, T=0.5389
Asian	Sub	112	A=0.268	C=0.000, T=0.732
East Asian	Sub	86	A=0.23	C=0.00, T=0.77
Other Asian	Sub	26	A=0.38	C=0.00, T=0.62
Latin American 1	Sub	146	A=0.514	C=0.000, T=0.486
Latin American 2	Sub	610	A=0.341	C=0.000, T=0.659
South Asian	Sub	98	A=0.32	C=0.00, T=0.68
Other	Sub	688	A=0.446	C=0.000, T=0.554

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	A=0.475069	T=0.524931
gnomAD - Genomes	Global	Study-wide	139866	A=0.487867	T=0.512133
gnomAD - Genomes	European	Sub	75806	A=0.52756	T=0.47244
gnomAD - Genomes	African	Sub	41852	A=0.45592	T=0.54408
gnomAD - Genomes	American	Sub	13610	A=0.40397	T=0.59603
gnomAD - Genomes	Ashkenazi Jewish	Sub	3316	A=0.6086	T=0.3914
gnomAD - Genomes	East Asian	Sub	3132	A=0.1964	T=0.8036
gnomAD - Genomes	Other	Sub	2150	A=0.4800	T=0.5200
14KJPN	JAPANESE	Study-wide	28256	A=0.23245	T=0.76755
Allele Frequency Aggregator	Total	Global	17984	A=0.50801	C=0.00000, T=0.49199
Allele Frequency Aggregator	European	Sub	13796	A=0.53052	C=0.00000, T=0.46948
Allele Frequency Aggregator	African	Sub	2534	A=0.4601	C=0.0000, T=0.5399
Allele Frequency Aggregator	Other	Sub	688	A=0.446	C=0.000, T=0.554
Allele Frequency Aggregator	Latin American 2	Sub	610	A=0.341	C=0.000, T=0.659
Allele Frequency Aggregator	Latin American 1	Sub	146	A=0.514	C=0.000, T=0.486
Allele Frequency Aggregator	Asian	Sub	112	A=0.268	C=0.000, T=0.732
Allele Frequency Aggregator	South Asian	Sub	98	A=0.32	C=0.00, T=0.68
8.3KJPN	JAPANESE	Study-wide	16760	A=0.22965	T=0.77035
1000Genomes_30x	Global	Study-wide	6404	A=0.4069	T=0.5931
1000Genomes_30x	African	Sub	1786	A=0.4457	T=0.5543
1000Genomes_30x	Europe	Sub	1266	A=0.5569	T=0.4431
1000Genomes_30x	South Asian	Sub	1202	A=0.3627	T=0.6373
1000Genomes_30x	East Asian	Sub	1170	A=0.2085	T=0.7915
1000Genomes_30x	American	Sub	980	A=0.434	T=0.566
1000Genomes	Global	Study-wide	5008	A=0.3994	T=0.6006
1000Genomes	African	Sub	1322	A=0.4395	T=0.5605
1000Genomes	East Asian	Sub	1008	A=0.2004	T=0.7996
1000Genomes	Europe	Sub	1006	A=0.5606	T=0.4394
1000Genomes	South Asian	Sub	978	A=0.363	T=0.637
1000Genomes	American	Sub	694	A=0.429	T=0.571
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.5016	T=0.4984
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.5363	T=0.4637
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.5256	T=0.4744
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.2137	C=0.0000, G=0.0000, T=0.7863
Korean Genome Project	KOREAN	Study-wide	1832	A=0.2085	T=0.7915
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.499	T=0.501
Northern Sweden	ACPOP	Study-wide	600	A=0.473	T=0.527
SGDP_PRJ	Global	Study-wide	472	A=0.237	T=0.763
Qatari	Global	Study-wide	216	A=0.537	T=0.463
A Vietnamese Genetic Variation Database	Global	Study-wide	210	A=0.195	T=0.805
The Danish reference pan genome	Danish	Study-wide	40	A=0.53	T=0.47
Siberian	Global	Study-wide	38	A=0.34	T=0.66

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 1	NC_000001.11:g.242862129A>C
GRCh38.p14 chr 1	NC_000001.11:g.242862129A>G
GRCh38.p14 chr 1	NC_000001.11:g.242862129A>T
GRCh37.p13 chr 1	NC_000001.10:g.243025431A>C
GRCh37.p13 chr 1	NC_000001.10:g.243025431A>G
GRCh37.p13 chr 1	NC_000001.10:g.243025431A>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	A=	C	G	T
GRCh38.p14 chr 1	NC_000001.11:g.242862129=	NC_000001.11:g.242862129A>C	NC_000001.11:g.242862129A>G	NC_000001.11:g.242862129A>T
GRCh37.p13 chr 1	NC_000001.10:g.243025431=	NC_000001.10:g.243025431A>C	NC_000001.10:g.243025431A>G	NC_000001.10:g.243025431A>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#.

74 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss11111819	Jul 11, 2003 (116)
2	SC_SNP	ss15441388	Feb 27, 2004 (120)
3	SSAHASNP	ss20602466	Apr 05, 2004 (121)
4	ABI	ss41214256	Mar 13, 2006 (126)
5	HGSV	ss85512750	Dec 15, 2007 (130)
6	BCMHGSC_JDW	ss88038909	Mar 23, 2008 (129)
7	BGI	ss102839683	Dec 01, 2009 (131)
8	1000GENOMES	ss109106815	Jan 23, 2009 (130)
9	1000GENOMES	ss112061746	Jan 25, 2009 (130)
10	ILLUMINA-UK	ss119277085	Feb 15, 2009 (130)
11	ENSEMBL	ss138188062	Dec 01, 2009 (131)
12	ENSEMBL	ss139010694	Dec 01, 2009 (131)
13	COMPLETE_GENOMICS	ss165568912	Jul 04, 2010 (132)
14	COMPLETE_GENOMICS	ss165943529	Jul 04, 2010 (132)
15	COMPLETE_GENOMICS	ss167586863	Jul 04, 2010 (132)
16	BUSHMAN	ss199858023	Jul 04, 2010 (132)
17	1000GENOMES	ss218986735	Jul 14, 2010 (132)
18	1000GENOMES	ss230981316	Jul 14, 2010 (132)
19	1000GENOMES	ss238579791	Jul 15, 2010 (132)
20	BL	ss253931177	May 09, 2011 (134)
21	GMI	ss276296109	May 04, 2012 (137)
22	GMI	ss284264187	Apr 25, 2013 (138)
23	PJP	ss290774434	May 09, 2011 (134)
24	TISHKOFF	ss555264080	Apr 25, 2013 (138)
25	SSMP	ss648839223	Apr 25, 2013 (138)
26	EVA-GONL	ss976347087	Aug 21, 2014 (142)
27	JMKIDD_LAB	ss1068755198	Aug 21, 2014 (142)
28	1000GENOMES	ss1295393464	Aug 21, 2014 (142)
29	DDI	ss1426173095	Apr 01, 2015 (144)
30	EVA_GENOME_DK	ss1574810567	Apr 01, 2015 (144)
31	EVA_DECODE	ss1585751424	Apr 01, 2015 (144)
32	EVA_UK10K_ALSPAC	ss1602537800	Apr 01, 2015 (144)
33	EVA_UK10K_TWINSUK	ss1645531833	Apr 01, 2015 (144)
34	HAMMER_LAB	ss1796021703	Sep 08, 2015 (146)
35	WEILL_CORNELL_DGM	ss1919569608	Feb 12, 2016 (147)
36	GENOMED	ss1967022577	Jul 19, 2016 (147)
37	JJLAB	ss2020312886	Sep 14, 2016 (149)
38	ILLUMINA	ss2094857580	Dec 20, 2016 (150)
39	ILLUMINA	ss2095003847	Dec 20, 2016 (150)
40	USC_VALOUEV	ss2148351254	Dec 20, 2016 (150)
41	HUMAN_LONGEVITY	ss2171604188	Dec 20, 2016 (150)
42	SYSTEMSBIOZJU	ss2624670351	Nov 08, 2017 (151)
43	GRF	ss2698356058	Nov 08, 2017 (151)
44	GNOMAD	ss2768296659	Nov 08, 2017 (151)
45	SWEGEN	ss2988761099	Nov 08, 2017 (151)
46	BIOINF_KMB_FNS_UNIBA	ss3023919378	Nov 08, 2017 (151)
47	CSHL	ss3344004650	Nov 08, 2017 (151)
48	URBANLAB	ss3646931058	Oct 11, 2018 (152)
49	ILLUMINA	ss3651546356	Oct 11, 2018 (152)
50	EGCUT_WGS	ss3656720780	Jul 12, 2019 (153)
51	EVA_DECODE	ss3689004871	Jul 12, 2019 (153)
52	ACPOP	ss3728032784	Jul 12, 2019 (153)
53	EVA	ss3747571956	Jul 12, 2019 (153)
54	KHV_HUMAN_GENOMES	ss3800575864	Jul 12, 2019 (153)
55	EVA	ss3826746936	Apr 25, 2020 (154)
56	EVA	ss3836776635	Apr 25, 2020 (154)
57	EVA	ss3842189683	Apr 25, 2020 (154)
58	SGDP_PRJ	ss3851293839	Apr 25, 2020 (154)
59	KRGDB	ss3896656386	Apr 25, 2020 (154)
60	KOGIC	ss3946874028	Apr 25, 2020 (154)
61	TOPMED	ss4489958725	Apr 27, 2021 (155)
62	TOMMO_GENOMICS	ss5149281432	Apr 27, 2021 (155)
63	1000G_HIGH_COVERAGE	ss5246450118	Oct 17, 2022 (156)
64	EVA	ss5325975723	Oct 17, 2022 (156)
65	HUGCELL_USP	ss5446823871	Oct 17, 2022 (156)
66	EVA	ss5506254062	Oct 17, 2022 (156)
67	1000G_HIGH_COVERAGE	ss5520870227	Oct 17, 2022 (156)
68	SANFORD_IMAGENETICS	ss5627823869	Oct 17, 2022 (156)
69	TOMMO_GENOMICS	ss5677286071	Oct 17, 2022 (156)
70	YY_MCH	ss5801809804	Oct 17, 2022 (156)
71	EVA	ss5833530031	Oct 17, 2022 (156)
72	EVA	ss5849372924	Oct 17, 2022 (156)
73	EVA	ss5912722703	Oct 17, 2022 (156)
74	EVA	ss5939673952	Oct 17, 2022 (156)
75	1000Genomes	NC_000001.10 - 243025431	Oct 11, 2018 (152)
76	1000Genomes_30x	NC_000001.11 - 242862129	Oct 17, 2022 (156)
77	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 243025431	Oct 11, 2018 (152)
78	Genetic variation in the Estonian population	NC_000001.10 - 243025431	Oct 11, 2018 (152)
79	The Danish reference pan genome	NC_000001.10 - 243025431	Apr 25, 2020 (154)
80	gnomAD - Genomes	NC_000001.11 - 242862129	Apr 27, 2021 (155)
81	Genome of the Netherlands Release 5	NC_000001.10 - 243025431	Apr 25, 2020 (154)
82	KOREAN population from KRGDB	NC_000001.10 - 243025431	Apr 25, 2020 (154)
83	Korean Genome Project	NC_000001.11 - 242862129	Apr 25, 2020 (154)
84	Northern Sweden	NC_000001.10 - 243025431	Jul 12, 2019 (153)
85	Qatari	NC_000001.10 - 243025431	Apr 25, 2020 (154)
86	SGDP_PRJ	NC_000001.10 - 243025431	Apr 25, 2020 (154)
87	Siberian	NC_000001.10 - 243025431	Apr 25, 2020 (154)
88	8.3KJPN	NC_000001.10 - 243025431	Apr 27, 2021 (155)
89	14KJPN	NC_000001.11 - 242862129	Oct 17, 2022 (156)
90	TopMed	NC_000001.11 - 242862129	Apr 27, 2021 (155)
91	UK 10K study - Twins	NC_000001.10 - 243025431	Oct 11, 2018 (152)
92	A Vietnamese Genetic Variation Database	NC_000001.10 - 243025431	Jul 12, 2019 (153)
93	ALFA	NC_000001.11 - 242862129	Apr 27, 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)
rs59991558	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
3833780, ss3896656386	NC_000001.10:243025430:A:C	NC_000001.11:242862128:A:C	(self)
5266841337	NC_000001.11:242862128:A:C	NC_000001.11:242862128:A:C	(self)
3833780, ss3896656386	NC_000001.10:243025430:A:G	NC_000001.11:242862128:A:G	(self)
ss85512750	NC_000001.8:239351471:A:T	NC_000001.11:242862128:A:T	(self)
ss88038909, ss109106815, ss112061746, ss119277085, ss165568912, ss165943529, ss167586863, ss199858023, ss253931177, ss276296109, ss284264187, ss290774434, ss1585751424, ss2094857580	NC_000001.9:241092053:A:T	NC_000001.11:242862128:A:T	(self)
6276033, 3477604, 2459028, 1967478, 1524618, 3833780, 1317649, 1611538, 3310819, 867608, 7250739, 3477604, 759510, ss218986735, ss230981316, ss238579791, ss555264080, ss648839223, ss976347087, ss1068755198, ss1295393464, ss1426173095, ss1574810567, ss1602537800, ss1645531833, ss1796021703, ss1919569608, ss1967022577, ss2020312886, ss2095003847, ss2148351254, ss2624670351, ss2698356058, ss2768296659, ss2988761099, ss3344004650, ss3651546356, ss3656720780, ss3728032784, ss3747571956, ss3826746936, ss3836776635, ss3851293839, ss3896656386, ss5149281432, ss5325975723, ss5506254062, ss5627823869, ss5833530031, ss5939673952	NC_000001.10:243025430:A:T	NC_000001.11:242862128:A:T	(self)
8396162, 44870278, 3252029, 11123175, 53565060, 5266841337, ss2171604188, ss3023919378, ss3646931058, ss3689004871, ss3800575864, ss3842189683, ss3946874028, ss4489958725, ss5246450118, ss5446823871, ss5520870227, ss5677286071, ss5801809804, ss5849372924, ss5912722703	NC_000001.11:242862128:A:T	NC_000001.11:242862128:A:T	(self)
ss20602466	NT_004836.15:7688794:A:T	NC_000001.11:242862128:A:T	(self)
ss11111819, ss15441388, ss41214256, ss102839683, ss138188062, ss139010694	NT_167186.1:36543209:A:T	NC_000001.11:242862128:A: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 rs7349072

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

rs7349072