Name: rs1832574
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.

rs1832574

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:19822565 (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: G=0.208338 (55145/264690, TOPMED)
G=0.230513 (31749/137732, ALFA)
A=0.36584 (10338/28258, 14KJPN) (+ 16 more)
A=0.36921 (6188/16760, 8.3KJPN)
G=0.2714 (1738/6404, 1000G_30x)
G=0.2802 (1403/5008, 1000G)
G=0.2038 (913/4480, Estonian)
G=0.2395 (923/3854, ALSPAC)
G=0.2484 (921/3708, TWINSUK)
A=0.3468 (1016/2930, KOREAN)
A=0.3690 (676/1832, Korea1K)
G=0.255 (254/998, GoNL)
G=0.297 (178/600, NorthernSweden)
G=0.290 (95/328, HapMap)
A=0.397 (108/272, SGDP_PRJ)
G=0.227 (49/216, Qatari)
A=0.429 (91/212, Vietnamese)
G=0.15 (6/40, GENOME_DK)
A=0.35 (14/40, 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	137732	A=0.769487	C=0.000000, G=0.230513
European	Sub	119382	A=0.760969	C=0.000000, G=0.239031
African	Sub	5026	A=0.9491	C=0.0000, G=0.0509
African Others	Sub	200	A=0.965	C=0.000, G=0.035
African American	Sub	4826	A=0.9484	C=0.0000, G=0.0516
Asian	Sub	532	A=0.476	C=0.000, G=0.524
East Asian	Sub	418	A=0.464	C=0.000, G=0.536
Other Asian	Sub	114	A=0.518	C=0.000, G=0.482
Latin American 1	Sub	690	A=0.830	C=0.000, G=0.170
Latin American 2	Sub	6036	A=0.8042	C=0.0000, G=0.1958
South Asian	Sub	122	A=0.705	C=0.000, G=0.295
Other	Sub	5944	A=0.7741	C=0.0000, G=0.2259

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=0.791662	G=0.208338
Allele Frequency Aggregator	Total	Global	137732	A=0.769487	C=0.000000, G=0.230513
Allele Frequency Aggregator	European	Sub	119382	A=0.760969	C=0.000000, G=0.239031
Allele Frequency Aggregator	Latin American 2	Sub	6036	A=0.8042	C=0.0000, G=0.1958
Allele Frequency Aggregator	Other	Sub	5944	A=0.7741	C=0.0000, G=0.2259
Allele Frequency Aggregator	African	Sub	5026	A=0.9491	C=0.0000, G=0.0509
Allele Frequency Aggregator	Latin American 1	Sub	690	A=0.830	C=0.000, G=0.170
Allele Frequency Aggregator	Asian	Sub	532	A=0.476	C=0.000, G=0.524
Allele Frequency Aggregator	South Asian	Sub	122	A=0.705	C=0.000, G=0.295
14KJPN	JAPANESE	Study-wide	28258	A=0.36584	G=0.63416
8.3KJPN	JAPANESE	Study-wide	16760	A=0.36921	G=0.63079
1000Genomes_30x	Global	Study-wide	6404	A=0.7286	G=0.2714
1000Genomes_30x	African	Sub	1786	A=0.9267	G=0.0733
1000Genomes_30x	Europe	Sub	1266	A=0.7670	G=0.2330
1000Genomes_30x	South Asian	Sub	1202	A=0.6306	G=0.3694
1000Genomes_30x	East Asian	Sub	1170	A=0.4145	G=0.5855
1000Genomes_30x	American	Sub	980	A=0.813	G=0.187
1000Genomes	Global	Study-wide	5008	A=0.7198	G=0.2802
1000Genomes	African	Sub	1322	A=0.9259	G=0.0741
1000Genomes	East Asian	Sub	1008	A=0.4206	G=0.5794
1000Genomes	Europe	Sub	1006	A=0.7714	G=0.2286
1000Genomes	South Asian	Sub	978	A=0.627	G=0.373
1000Genomes	American	Sub	694	A=0.818	G=0.182
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.7962	G=0.2038
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.7605	G=0.2395
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.7516	G=0.2484
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.3468	C=0.0000, G=0.6532, T=0.0000
Korean Genome Project	KOREAN	Study-wide	1832	A=0.3690	G=0.6310
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.745	G=0.255
Northern Sweden	ACPOP	Study-wide	600	A=0.703	G=0.297
HapMap	Global	Study-wide	328	A=0.710	G=0.290
HapMap	African	Sub	120	A=0.933	G=0.067
HapMap	American	Sub	120	A=0.750	G=0.250
HapMap	Asian	Sub	88	A=0.35	G=0.65
SGDP_PRJ	Global	Study-wide	272	A=0.397	G=0.603
Qatari	Global	Study-wide	216	A=0.773	G=0.227
A Vietnamese Genetic Variation Database	Global	Study-wide	212	A=0.429	G=0.571
The Danish reference pan genome	Danish	Study-wide	40	A=0.85	G=0.15
Siberian	Global	Study-wide	40	A=0.35	G=0.65

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.19822565A>C
GRCh38.p14 chr 1	NC_000001.11:g.19822565A>G
GRCh38.p14 chr 1	NC_000001.11:g.19822565A>T
GRCh37.p13 chr 1	NC_000001.10:g.20149058A>C
GRCh37.p13 chr 1	NC_000001.10:g.20149058A>G
GRCh37.p13 chr 1	NC_000001.10:g.20149058A>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.19822565=	NC_000001.11:g.19822565A>C	NC_000001.11:g.19822565A>G	NC_000001.11:g.19822565A>T
GRCh37.p13 chr 1	NC_000001.10:g.20149058=	NC_000001.10:g.20149058A>C	NC_000001.10:g.20149058A>G	NC_000001.10:g.20149058A>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#.

101 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss2701376	Jan 12, 2001 (92)
2	SC_JCM	ss5921441	Feb 20, 2003 (111)
3	WI_SSAHASNP	ss11389702	Jul 11, 2003 (116)
4	CSHL-HAPMAP	ss19118588	Feb 27, 2004 (120)
5	CSHL-HAPMAP	ss19846934	Feb 27, 2004 (120)
6	PERLEGEN	ss23841687	Sep 20, 2004 (123)
7	ABI	ss43944640	Mar 14, 2006 (126)
8	AFFY	ss65978941	Dec 01, 2006 (127)
9	HGSV	ss83528720	Dec 15, 2007 (130)
10	BCMHGSC_JDW	ss87278798	Mar 23, 2008 (129)
11	BGI	ss102725262	Dec 01, 2009 (131)
12	1000GENOMES	ss108042051	Jan 22, 2009 (130)
13	ENSEMBL	ss131735223	Dec 01, 2009 (131)
14	ENSEMBL	ss137831263	Dec 01, 2009 (131)
15	GMI	ss154729858	Dec 01, 2009 (131)
16	ILLUMINA	ss160465323	Dec 01, 2009 (131)
17	COMPLETE_GENOMICS	ss163930348	Jul 04, 2010 (132)
18	COMPLETE_GENOMICS	ss166198003	Jul 04, 2010 (132)
19	BCM-HGSC-SUB	ss205226641	Jul 04, 2010 (132)
20	1000GENOMES	ss218270475	Jul 14, 2010 (132)
21	1000GENOMES	ss230452243	Jul 14, 2010 (132)
22	1000GENOMES	ss238162532	Jul 15, 2010 (132)
23	BL	ss252964302	May 09, 2011 (134)
24	GMI	ss275743221	May 04, 2012 (137)
25	GMI	ss284013747	Apr 25, 2013 (138)
26	PJP	ss290780890	May 09, 2011 (134)
27	ILLUMINA	ss480307979	May 04, 2012 (137)
28	ILLUMINA	ss480319005	May 04, 2012 (137)
29	ILLUMINA	ss481077035	Sep 08, 2015 (146)
30	ILLUMINA	ss484951714	May 04, 2012 (137)
31	ILLUMINA	ss536994988	Sep 08, 2015 (146)
32	SSMP	ss647623302	Apr 25, 2013 (138)
33	ILLUMINA	ss778468579	Sep 08, 2015 (146)
34	ILLUMINA	ss782922163	Sep 08, 2015 (146)
35	ILLUMINA	ss783885129	Sep 08, 2015 (146)
36	ILLUMINA	ss832177323	Sep 08, 2015 (146)
37	ILLUMINA	ss833924345	Sep 08, 2015 (146)
38	EVA-GONL	ss974920316	Aug 21, 2014 (142)
39	JMKIDD_LAB	ss1067716613	Aug 21, 2014 (142)
40	1000GENOMES	ss1289935580	Aug 21, 2014 (142)
41	DDI	ss1425736854	Apr 01, 2015 (144)
42	EVA_GENOME_DK	ss1573925226	Apr 01, 2015 (144)
43	EVA_DECODE	ss1584278172	Apr 01, 2015 (144)
44	EVA_UK10K_ALSPAC	ss1599674475	Apr 01, 2015 (144)
45	EVA_UK10K_TWINSUK	ss1642668508	Apr 01, 2015 (144)
46	ILLUMINA	ss1751891634	Sep 08, 2015 (146)
47	WEILL_CORNELL_DGM	ss1918132006	Feb 12, 2016 (147)
48	GENOMED	ss1966699517	Jul 19, 2016 (147)
49	JJLAB	ss2019577578	Sep 14, 2016 (149)
50	ILLUMINA	ss2094841592	Dec 20, 2016 (150)
51	ILLUMINA	ss2094954580	Dec 20, 2016 (150)
52	USC_VALOUEV	ss2147580970	Dec 20, 2016 (150)
53	HUMAN_LONGEVITY	ss2160519744	Dec 20, 2016 (150)
54	SYSTEMSBIOZJU	ss2624305082	Nov 08, 2017 (151)
55	ILLUMINA	ss2632486397	Nov 08, 2017 (151)
56	GRF	ss2697485418	Nov 08, 2017 (151)
57	GNOMAD	ss2752378061	Nov 08, 2017 (151)
58	SWEGEN	ss2986423740	Nov 08, 2017 (151)
59	BIOINF_KMB_FNS_UNIBA	ss3023553846	Nov 08, 2017 (151)
60	CSHL	ss3343354971	Nov 08, 2017 (151)
61	ILLUMINA	ss3626042103	Oct 11, 2018 (152)
62	ILLUMINA	ss3630524227	Oct 11, 2018 (152)
63	ILLUMINA	ss3632883283	Oct 11, 2018 (152)
64	ILLUMINA	ss3633577291	Oct 11, 2018 (152)
65	ILLUMINA	ss3634310923	Oct 11, 2018 (152)
66	ILLUMINA	ss3635271345	Oct 11, 2018 (152)
67	ILLUMINA	ss3635987148	Oct 11, 2018 (152)
68	ILLUMINA	ss3637021725	Oct 11, 2018 (152)
69	ILLUMINA	ss3640018287	Oct 11, 2018 (152)
70	URBANLAB	ss3646616259	Oct 11, 2018 (152)
71	ILLUMINA	ss3651387810	Oct 11, 2018 (152)
72	EGCUT_WGS	ss3654494105	Jul 12, 2019 (153)
73	EVA_DECODE	ss3686293890	Jul 12, 2019 (153)
74	ACPOP	ss3726847430	Jul 12, 2019 (153)
75	ILLUMINA	ss3744611885	Jul 12, 2019 (153)
76	EVA	ss3745909509	Jul 12, 2019 (153)
77	ILLUMINA	ss3772113458	Jul 12, 2019 (153)
78	PACBIO	ss3783345749	Jul 12, 2019 (153)
79	PACBIO	ss3789016548	Jul 12, 2019 (153)
80	PACBIO	ss3793889023	Jul 12, 2019 (153)
81	KHV_HUMAN_GENOMES	ss3798930049	Jul 12, 2019 (153)
82	EVA	ss3826057549	Apr 25, 2020 (154)
83	SGDP_PRJ	ss3848352754	Apr 25, 2020 (154)
84	KRGDB	ss3893260174	Apr 25, 2020 (154)
85	KOGIC	ss3943977411	Apr 25, 2020 (154)
86	TOPMED	ss4441268609	Apr 27, 2021 (155)
87	TOMMO_GENOMICS	ss5142809172	Apr 27, 2021 (155)
88	1000G_HIGH_COVERAGE	ss5241418735	Oct 12, 2022 (156)
89	EVA	ss5314598523	Oct 12, 2022 (156)
90	EVA	ss5317173453	Oct 12, 2022 (156)
91	HUGCELL_USP	ss5442577958	Oct 12, 2022 (156)
92	EVA	ss5505781939	Oct 12, 2022 (156)
93	1000G_HIGH_COVERAGE	ss5513284462	Oct 12, 2022 (156)
94	SANFORD_IMAGENETICS	ss5625062815	Oct 12, 2022 (156)
95	TOMMO_GENOMICS	ss5667208787	Oct 12, 2022 (156)
96	EVA	ss5799477232	Oct 12, 2022 (156)
97	YY_MCH	ss5800389861	Oct 12, 2022 (156)
98	EVA	ss5831633231	Oct 12, 2022 (156)
99	EVA	ss5848812515	Oct 12, 2022 (156)
100	EVA	ss5907294291	Oct 12, 2022 (156)
101	EVA	ss5936877607	Oct 12, 2022 (156)
102	1000Genomes	NC_000001.10 - 20149058	Oct 11, 2018 (152)
103	1000Genomes_30x	NC_000001.11 - 19822565	Oct 12, 2022 (156)
104	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 20149058	Oct 11, 2018 (152)
105	Genetic variation in the Estonian population	NC_000001.10 - 20149058	Oct 11, 2018 (152)
106	The Danish reference pan genome	NC_000001.10 - 20149058	Apr 25, 2020 (154)
107	gnomAD - Genomes Submission ignored due to conflicting rows: Row 4309144 (NC_000001.11:19822564:A:C 1/140116) Row 4309145 (NC_000001.11:19822564:A:G 27832/140078)	-	Apr 27, 2021 (155)
108	gnomAD - Genomes Submission ignored due to conflicting rows: Row 4309144 (NC_000001.11:19822564:A:C 1/140116) Row 4309145 (NC_000001.11:19822564:A:G 27832/140078)	-	Apr 27, 2021 (155)
109	Genome of the Netherlands Release 5	NC_000001.10 - 20149058	Apr 25, 2020 (154)
110	HapMap	NC_000001.11 - 19822565	Apr 25, 2020 (154)
111	KOREAN population from KRGDB	NC_000001.10 - 20149058	Apr 25, 2020 (154)
112	Korean Genome Project	NC_000001.11 - 19822565	Apr 25, 2020 (154)
113	Northern Sweden	NC_000001.10 - 20149058	Jul 12, 2019 (153)
114	Qatari	NC_000001.10 - 20149058	Apr 25, 2020 (154)
115	SGDP_PRJ	NC_000001.10 - 20149058	Apr 25, 2020 (154)
116	Siberian	NC_000001.10 - 20149058	Apr 25, 2020 (154)
117	8.3KJPN	NC_000001.10 - 20149058	Apr 27, 2021 (155)
118	14KJPN	NC_000001.11 - 19822565	Oct 12, 2022 (156)
119	TopMed	NC_000001.11 - 19822565	Apr 27, 2021 (155)
120	UK 10K study - Twins	NC_000001.10 - 20149058	Oct 11, 2018 (152)
121	A Vietnamese Genetic Variation Database	NC_000001.10 - 20149058	Jul 12, 2019 (153)
122	ALFA	NC_000001.11 - 19822565	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)
rs60899250	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
437568, ss2752378061, ss3893260174	NC_000001.10:20149057:A:C	NC_000001.11:19822564:A:C	(self)
14537978133	NC_000001.11:19822564:A:C	NC_000001.11:19822564:A:C	(self)
ss83528720	NC_000001.8:19894363:A:G	NC_000001.11:19822564:A:G	(self)
ss87278798, ss108042051, ss163930348, ss166198003, ss205226641, ss252964302, ss275743221, ss284013747, ss290780890, ss480307979, ss1584278172, ss2094841592	NC_000001.9:20021644:A:G	NC_000001.11:19822564:A:G	(self)
620021, 325703, 232353, 1415612, 141634, 437568, 132295, 173936, 369734, 97324, 778479, 325703, 69980, ss218270475, ss230452243, ss238162532, ss480319005, ss481077035, ss484951714, ss536994988, ss647623302, ss778468579, ss782922163, ss783885129, ss832177323, ss833924345, ss974920316, ss1067716613, ss1289935580, ss1425736854, ss1573925226, ss1599674475, ss1642668508, ss1751891634, ss1918132006, ss1966699517, ss2019577578, ss2094954580, ss2147580970, ss2624305082, ss2632486397, ss2697485418, ss2752378061, ss2986423740, ss3343354971, ss3626042103, ss3630524227, ss3632883283, ss3633577291, ss3634310923, ss3635271345, ss3635987148, ss3637021725, ss3640018287, ss3651387810, ss3654494105, ss3726847430, ss3744611885, ss3745909509, ss3772113458, ss3783345749, ss3789016548, ss3793889023, ss3826057549, ss3848352754, ss3893260174, ss5142809172, ss5314598523, ss5317173453, ss5505781939, ss5625062815, ss5799477232, ss5831633231, ss5936877607	NC_000001.10:20149057:A:G	NC_000001.11:19822564:A:G	(self)
810397, 25249, 355412, 1045891, 4874944, 14537978133, ss2160519744, ss3023553846, ss3646616259, ss3686293890, ss3798930049, ss3943977411, ss4441268609, ss5241418735, ss5442577958, ss5513284462, ss5667208787, ss5800389861, ss5848812515, ss5907294291	NC_000001.11:19822564:A:G	NC_000001.11:19822564:A:G	(self)
ss11389702	NT_004610.15:952307:A:G	NC_000001.11:19822564:A:G	(self)
ss19118588, ss19846934	NT_004610.16:952307:A:G	NC_000001.11:19822564:A:G	(self)
ss2701376, ss5921441, ss23841687, ss43944640, ss65978941, ss102725262, ss131735223, ss137831263, ss154729858, ss160465323	NT_004610.19:6829145:A:G	NC_000001.11:19822564:A:G	(self)
437568, ss3893260174	NC_000001.10:20149057:A:T	NC_000001.11:19822564: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 rs1832574

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

rs1832574