Name: rs1575014
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.

rs1575014

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:113075683 (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: A=0.123118 (32588/264690, TOPMED)
A=0.128619 (17985/139832, GnomAD)
A=0.13563 (6326/46640, ALFA) (+ 17 more)
A=0.03118 (881/28256, 14KJPN)
A=0.03187 (534/16758, 8.3KJPN)
A=0.1101 (705/6404, 1000G_30x)
A=0.1140 (571/5008, 1000G)
A=0.1540 (690/4480, Estonian)
A=0.1570 (605/3854, ALSPAC)
A=0.1570 (582/3708, TWINSUK)
A=0.0273 (80/2930, KOREAN)
A=0.0224 (41/1832, Korea1K)
A=0.139 (139/998, GoNL)
A=0.133 (80/600, NorthernSweden)
A=0.094 (52/554, SGDP_PRJ)
A=0.085 (28/330, HapMap)
A=0.167 (36/216, Qatari)
A=0.019 (4/216, Vietnamese)
A=0.05 (3/56, Siberian)
A=0.25 (10/40, GENOME_DK)

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	46640	A=0.13563	G=0.86437
European	Sub	32382	A=0.15181	G=0.84819
African	Sub	4938	A=0.0871	G=0.9129
African Others	Sub	180	A=0.056	G=0.944
African American	Sub	4758	A=0.0883	G=0.9117
Asian	Sub	438	A=0.043	G=0.957
East Asian	Sub	372	A=0.040	G=0.960
Other Asian	Sub	66	A=0.06	G=0.94
Latin American 1	Sub	574	A=0.120	G=0.880
Latin American 2	Sub	4900	A=0.0702	G=0.9298
South Asian	Sub	162	A=0.265	G=0.735
Other	Sub	3246	A=0.1556	G=0.8444

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=0.123118	G=0.876882
gnomAD - Genomes	Global	Study-wide	139832	A=0.128619	G=0.871381
gnomAD - Genomes	European	Sub	75772	A=0.15508	G=0.84492
gnomAD - Genomes	African	Sub	41932	A=0.08862	G=0.91138
gnomAD - Genomes	American	Sub	13550	A=0.11601	G=0.88399
gnomAD - Genomes	Ashkenazi Jewish	Sub	3312	A=0.1670	G=0.8330
gnomAD - Genomes	East Asian	Sub	3120	A=0.0359	G=0.9641
gnomAD - Genomes	Other	Sub	2146	A=0.1309	G=0.8691
Allele Frequency Aggregator	Total	Global	46640	A=0.13563	G=0.86437
Allele Frequency Aggregator	European	Sub	32382	A=0.15181	G=0.84819
Allele Frequency Aggregator	African	Sub	4938	A=0.0871	G=0.9129
Allele Frequency Aggregator	Latin American 2	Sub	4900	A=0.0702	G=0.9298
Allele Frequency Aggregator	Other	Sub	3246	A=0.1556	G=0.8444
Allele Frequency Aggregator	Latin American 1	Sub	574	A=0.120	G=0.880
Allele Frequency Aggregator	Asian	Sub	438	A=0.043	G=0.957
Allele Frequency Aggregator	South Asian	Sub	162	A=0.265	G=0.735
14KJPN	JAPANESE	Study-wide	28256	A=0.03118	G=0.96882
8.3KJPN	JAPANESE	Study-wide	16758	A=0.03187	G=0.96813
1000Genomes_30x	Global	Study-wide	6404	A=0.1101	G=0.8899
1000Genomes_30x	African	Sub	1786	A=0.0711	G=0.9289
1000Genomes_30x	Europe	Sub	1266	A=0.1572	G=0.8428
1000Genomes_30x	South Asian	Sub	1202	A=0.1972	G=0.8028
1000Genomes_30x	East Asian	Sub	1170	A=0.0359	G=0.9641
1000Genomes_30x	American	Sub	980	A=0.102	G=0.898
1000Genomes	Global	Study-wide	5008	A=0.1140	G=0.8860
1000Genomes	African	Sub	1322	A=0.0726	G=0.9274
1000Genomes	East Asian	Sub	1008	A=0.0377	G=0.9623
1000Genomes	Europe	Sub	1006	A=0.1670	G=0.8330
1000Genomes	South Asian	Sub	978	A=0.199	G=0.801
1000Genomes	American	Sub	694	A=0.107	G=0.893
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.1540	G=0.8460
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.1570	G=0.8430
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.1570	G=0.8430
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.0273	G=0.9727
Korean Genome Project	KOREAN	Study-wide	1832	A=0.0224	G=0.9776
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.139	G=0.861
Northern Sweden	ACPOP	Study-wide	600	A=0.133	G=0.867
SGDP_PRJ	Global	Study-wide	554	A=0.094	G=0.906
HapMap	Global	Study-wide	330	A=0.085	G=0.915
HapMap	African	Sub	120	A=0.050	G=0.950
HapMap	American	Sub	120	A=0.117	G=0.883
HapMap	Asian	Sub	90	A=0.09	G=0.91
Qatari	Global	Study-wide	216	A=0.167	G=0.833
A Vietnamese Genetic Variation Database	Global	Study-wide	216	A=0.019	G=0.981
Siberian	Global	Study-wide	56	A=0.05	G=0.95
The Danish reference pan genome	Danish	Study-wide	40	A=0.25	G=0.75

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 7	NC_000007.14:g.113075683A>G
GRCh37.p13 chr 7	NC_000007.13:g.112715738A>G

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 7	NC_000007.14:g.113075683=	NC_000007.14:g.113075683A>G
GRCh37.p13 chr 7	NC_000007.13:g.112715738=	NC_000007.13:g.112715738A>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#.

86 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss2089198	Oct 24, 2000 (88)
2	SC_JCM	ss3454357	Sep 28, 2001 (100)
3	SC_JCM	ss3814518	Sep 28, 2001 (100)
4	BCM_SSAHASNP	ss10390363	Jul 11, 2003 (116)
5	WI_SSAHASNP	ss11880630	Jul 11, 2003 (116)
6	WUGSC_SSAHASNP	ss14565031	Dec 05, 2003 (120)
7	CSHL-HAPMAP	ss17173178	Feb 27, 2004 (120)
8	SSAHASNP	ss22651435	Apr 05, 2004 (121)
9	SSAHASNP	ss22968485	Apr 05, 2004 (121)
10	PERLEGEN	ss24450336	Sep 20, 2004 (123)
11	ABI	ss44799485	Mar 15, 2006 (126)
12	HGSV	ss84690974	Dec 15, 2007 (130)
13	BCMHGSC_JDW	ss93748868	Mar 25, 2008 (129)
14	HUMANGENOME_JCVI	ss98328041	Feb 06, 2009 (130)
15	BGI	ss104460806	Dec 01, 2009 (131)
16	1000GENOMES	ss112456170	Jan 25, 2009 (130)
17	1000GENOMES	ss114285650	Jan 25, 2009 (130)
18	ILLUMINA-UK	ss116257532	Feb 14, 2009 (130)
19	ENSEMBL	ss139814156	Dec 01, 2009 (131)
20	ENSEMBL	ss142820096	Dec 01, 2009 (131)
21	GMI	ss155361331	Dec 01, 2009 (131)
22	ILLUMINA	ss160375527	Dec 01, 2009 (131)
23	COMPLETE_GENOMICS	ss162630967	Jul 04, 2010 (132)
24	COMPLETE_GENOMICS	ss165174128	Jul 04, 2010 (132)
25	COMPLETE_GENOMICS	ss167007317	Jul 04, 2010 (132)
26	BUSHMAN	ss198111968	Jul 04, 2010 (132)
27	BCM-HGSC-SUB	ss208011789	Jul 04, 2010 (132)
28	1000GENOMES	ss223275017	Jul 14, 2010 (132)
29	1000GENOMES	ss234126578	Jul 15, 2010 (132)
30	1000GENOMES	ss241050593	Jul 15, 2010 (132)
31	BL	ss254615774	May 09, 2011 (134)
32	GMI	ss279490873	May 04, 2012 (137)
33	GMI	ss285700314	Apr 25, 2013 (138)
34	PJP	ss293947869	May 09, 2011 (134)
35	ILLUMINA	ss480719490	Sep 08, 2015 (146)
36	TISHKOFF	ss560240738	Apr 25, 2013 (138)
37	SSMP	ss654645437	Apr 25, 2013 (138)
38	EVA-GONL	ss984684972	Aug 21, 2014 (142)
39	JMKIDD_LAB	ss1074899334	Aug 21, 2014 (142)
40	1000GENOMES	ss1326711248	Aug 21, 2014 (142)
41	DDI	ss1431249215	Apr 01, 2015 (144)
42	EVA_GENOME_DK	ss1582360551	Apr 01, 2015 (144)
43	EVA_DECODE	ss1594267454	Apr 01, 2015 (144)
44	EVA_UK10K_ALSPAC	ss1618989088	Apr 01, 2015 (144)
45	EVA_UK10K_TWINSUK	ss1661983121	Apr 01, 2015 (144)
46	HAMMER_LAB	ss1805174634	Sep 08, 2015 (146)
47	WEILL_CORNELL_DGM	ss1927947728	Feb 12, 2016 (147)
48	GENOMED	ss1970791383	Jul 19, 2016 (147)
49	JJLAB	ss2024657403	Sep 14, 2016 (149)
50	USC_VALOUEV	ss2152881687	Dec 20, 2016 (150)
51	HUMAN_LONGEVITY	ss2296950824	Dec 20, 2016 (150)
52	SYSTEMSBIOZJU	ss2626819255	Nov 08, 2017 (151)
53	GRF	ss2708596706	Nov 08, 2017 (151)
54	GNOMAD	ss2857867283	Nov 08, 2017 (151)
55	SWEGEN	ss3001864646	Nov 08, 2017 (151)
56	BIOINF_KMB_FNS_UNIBA	ss3026120229	Nov 08, 2017 (151)
57	CSHL	ss3347797437	Nov 08, 2017 (151)
58	ILLUMINA	ss3636871928	Oct 12, 2018 (152)
59	URBANLAB	ss3648730802	Oct 12, 2018 (152)
60	EGCUT_WGS	ss3669612074	Jul 13, 2019 (153)
61	EVA_DECODE	ss3720485647	Jul 13, 2019 (153)
62	ACPOP	ss3734981240	Jul 13, 2019 (153)
63	EVA	ss3767034408	Jul 13, 2019 (153)
64	PACBIO	ss3785930786	Jul 13, 2019 (153)
65	PACBIO	ss3791214131	Jul 13, 2019 (153)
66	PACBIO	ss3796094226	Jul 13, 2019 (153)
67	KHV_HUMAN_GENOMES	ss3810206808	Jul 13, 2019 (153)
68	EVA	ss3830768193	Apr 26, 2020 (154)
69	EVA	ss3838883253	Apr 26, 2020 (154)
70	EVA	ss3844339163	Apr 26, 2020 (154)
71	SGDP_PRJ	ss3868180961	Apr 26, 2020 (154)
72	KRGDB	ss3915502729	Apr 26, 2020 (154)
73	KOGIC	ss3962382349	Apr 26, 2020 (154)
74	TOPMED	ss4759857779	Apr 26, 2021 (155)
75	TOMMO_GENOMICS	ss5185104659	Apr 26, 2021 (155)
76	1000G_HIGH_COVERAGE	ss5274368114	Oct 13, 2022 (156)
77	EVA	ss5376097650	Oct 13, 2022 (156)
78	HUGCELL_USP	ss5471292813	Oct 13, 2022 (156)
79	1000G_HIGH_COVERAGE	ss5563321141	Oct 13, 2022 (156)
80	SANFORD_IMAGENETICS	ss5643777448	Oct 13, 2022 (156)
81	TOMMO_GENOMICS	ss5725958029	Oct 13, 2022 (156)
82	YY_MCH	ss5809005953	Oct 13, 2022 (156)
83	EVA	ss5823384082	Oct 13, 2022 (156)
84	EVA	ss5856055924	Oct 13, 2022 (156)
85	EVA	ss5860457373	Oct 13, 2022 (156)
86	EVA	ss5972963276	Oct 13, 2022 (156)
87	1000Genomes	NC_000007.13 - 112715738	Oct 12, 2018 (152)
88	1000Genomes_30x	NC_000007.14 - 113075683	Oct 13, 2022 (156)
89	The Avon Longitudinal Study of Parents and Children	NC_000007.13 - 112715738	Oct 12, 2018 (152)
90	Genetic variation in the Estonian population	NC_000007.13 - 112715738	Oct 12, 2018 (152)
91	The Danish reference pan genome	NC_000007.13 - 112715738	Apr 26, 2020 (154)
92	gnomAD - Genomes	NC_000007.14 - 113075683	Apr 26, 2021 (155)
93	Genome of the Netherlands Release 5	NC_000007.13 - 112715738	Apr 26, 2020 (154)
94	HapMap	NC_000007.14 - 113075683	Apr 26, 2020 (154)
95	KOREAN population from KRGDB	NC_000007.13 - 112715738	Apr 26, 2020 (154)
96	Korean Genome Project	NC_000007.14 - 113075683	Apr 26, 2020 (154)
97	Northern Sweden	NC_000007.13 - 112715738	Jul 13, 2019 (153)
98	Qatari	NC_000007.13 - 112715738	Apr 26, 2020 (154)
99	SGDP_PRJ	NC_000007.13 - 112715738	Apr 26, 2020 (154)
100	Siberian	NC_000007.13 - 112715738	Apr 26, 2020 (154)
101	8.3KJPN	NC_000007.13 - 112715738	Apr 26, 2021 (155)
102	14KJPN	NC_000007.14 - 113075683	Oct 13, 2022 (156)
103	TopMed	NC_000007.14 - 113075683	Apr 26, 2021 (155)
104	UK 10K study - Twins	NC_000007.13 - 112715738	Oct 12, 2018 (152)
105	A Vietnamese Genetic Variation Database	NC_000007.13 - 112715738	Jul 13, 2019 (153)
106	ALFA	NC_000007.14 - 113075683	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)
rs10359648	Feb 27, 2004 (120)
rs17486936	Oct 08, 2004 (123)
rs60769207	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss84690974	NC_000007.11:112309688:A:G	NC_000007.14:113075682:A:G	(self)
ss93748868, ss112456170, ss114285650, ss116257532, ss160375527, ss162630967, ss165174128, ss167007317, ss198111968, ss208011789, ss254615774, ss279490873, ss285700314, ss293947869, ss1594267454	NC_000007.12:112502973:A:G	NC_000007.14:113075682:A:G	(self)
38738758, 21550604, 15350322, 8525490, 9618411, 22680123, 8266105, 9989658, 20197941, 5398041, 43073966, 21550604, 4802543, ss223275017, ss234126578, ss241050593, ss480719490, ss560240738, ss654645437, ss984684972, ss1074899334, ss1326711248, ss1431249215, ss1582360551, ss1618989088, ss1661983121, ss1805174634, ss1927947728, ss1970791383, ss2024657403, ss2152881687, ss2626819255, ss2708596706, ss2857867283, ss3001864646, ss3347797437, ss3636871928, ss3669612074, ss3734981240, ss3767034408, ss3785930786, ss3791214131, ss3796094226, ss3830768193, ss3838883253, ss3868180961, ss3915502729, ss5185104659, ss5376097650, ss5643777448, ss5823384082, ss5972963276	NC_000007.13:112715737:A:G	NC_000007.14:113075682:A:G	(self)
50847076, 273435284, 3472018, 18760350, 59795133, 597235338, 474301540, ss2296950824, ss3026120229, ss3648730802, ss3720485647, ss3810206808, ss3844339163, ss3962382349, ss4759857779, ss5274368114, ss5471292813, ss5563321141, ss5725958029, ss5809005953, ss5856055924, ss5860457373	NC_000007.14:113075682:A:G	NC_000007.14:113075682:A:G	(self)
ss10390363, ss11880630	NT_007933.12:37898455:A:G	NC_000007.14:113075682:A:G	(self)
ss14565031, ss17173178, ss22651435, ss22968485	NT_007933.13:37898455:A:G	NC_000007.14:113075682:A:G	(self)
ss2089198, ss3454357, ss3814518, ss24450336, ss44799485, ss98328041, ss104460806, ss139814156, ss142820096, ss155361331	NT_007933.15:50748580:A:G	NC_000007.14:113075682: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 rs1575014

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

rs1575014