Name: rs6043372
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.

rs6043372

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr20:1628616 (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: G>A / G>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.195829 (51834/264690, TOPMED)
C=0.08687 (1290/14850, ALFA)
C=0.1518 (972/6404, 1000G_30x) (+ 13 more)
C=0.1494 (748/5008, 1000G)
C=0.1978 (886/4480, Estonian)
C=0.1370 (528/3854, ALSPAC)
C=0.1456 (540/3708, TWINSUK)
C=0.0027 (5/1832, Korea1K)
C=0.135 (135/998, GoNL)
C=0.197 (118/600, NorthernSweden)
C=0.287 (62/216, Qatari)
C=0.035 (7/200, HapMap)
G=0.475 (57/120, SGDP_PRJ)
C=0.12 (5/40, GENOME_DK)
G=0.5 (3/6, Siberian)
C=0.5 (3/6, 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	14850	G=0.91313	A=0.00000, C=0.08687
European	Sub	12110	G=0.90033	A=0.00000, C=0.09967
African	Sub	1414	G=0.9703	A=0.0000, C=0.0297
African Others	Sub	50	G=0.96	A=0.00, C=0.04
African American	Sub	1364	G=0.9707	A=0.0000, C=0.0293
Asian	Sub	112	G=1.000	A=0.000, C=0.000
East Asian	Sub	86	G=1.00	A=0.00, C=0.00
Other Asian	Sub	26	G=1.00	A=0.00, C=0.00
Latin American 1	Sub	92	G=1.00	A=0.00, C=0.00
Latin American 2	Sub	498	G=1.000	A=0.000, C=0.000
South Asian	Sub	88	G=1.00	A=0.00, C=0.00
Other	Sub	536	G=0.924	A=0.000, C=0.076

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	G=0.804171	C=0.195829
Allele Frequency Aggregator	Total	Global	14850	G=0.91313	A=0.00000, C=0.08687
Allele Frequency Aggregator	European	Sub	12110	G=0.90033	A=0.00000, C=0.09967
Allele Frequency Aggregator	African	Sub	1414	G=0.9703	A=0.0000, C=0.0297
Allele Frequency Aggregator	Other	Sub	536	G=0.924	A=0.000, C=0.076
Allele Frequency Aggregator	Latin American 2	Sub	498	G=1.000	A=0.000, C=0.000
Allele Frequency Aggregator	Asian	Sub	112	G=1.000	A=0.000, C=0.000
Allele Frequency Aggregator	Latin American 1	Sub	92	G=1.00	A=0.00, C=0.00
Allele Frequency Aggregator	South Asian	Sub	88	G=1.00	A=0.00, C=0.00
1000Genomes_30x	Global	Study-wide	6404	G=0.8482	C=0.1518
1000Genomes_30x	African	Sub	1786	G=0.6467	C=0.3533
1000Genomes_30x	Europe	Sub	1266	G=0.8491	C=0.1509
1000Genomes_30x	South Asian	Sub	1202	G=0.9484	C=0.0516
1000Genomes_30x	East Asian	Sub	1170	G=0.9983	C=0.0017
1000Genomes_30x	American	Sub	980	G=0.912	C=0.088
1000Genomes	Global	Study-wide	5008	G=0.8506	C=0.1494
1000Genomes	African	Sub	1322	G=0.6452	C=0.3548
1000Genomes	East Asian	Sub	1008	G=0.9980	C=0.0020
1000Genomes	Europe	Sub	1006	G=0.8410	C=0.1590
1000Genomes	South Asian	Sub	978	G=0.948	C=0.052
1000Genomes	American	Sub	694	G=0.905	C=0.095
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.8022	C=0.1978
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.8630	C=0.1370
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.8544	C=0.1456
Korean Genome Project	KOREAN	Study-wide	1832	G=0.9973	C=0.0027
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.865	C=0.135
Northern Sweden	ACPOP	Study-wide	600	G=0.803	C=0.197
Qatari	Global	Study-wide	216	G=0.713	C=0.287
HapMap	Global	Study-wide	200	G=0.965	C=0.035
HapMap	American	Sub	110	G=0.936	C=0.064
HapMap	Asian	Sub	90	G=1.00	C=0.00
SGDP_PRJ	Global	Study-wide	120	G=0.475	C=0.525
The Danish reference pan genome	Danish	Study-wide	40	G=0.88	C=0.12
Siberian	Global	Study-wide	6	G=0.5	C=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 20	NC_000020.11:g.1628616G>A
GRCh38.p14 chr 20	NC_000020.11:g.1628616G>C
GRCh37.p13 chr 20	NC_000020.10:g.1609262G>A
GRCh37.p13 chr 20	NC_000020.10:g.1609262G>C

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	G=	A	C
GRCh38.p14 chr 20	NC_000020.11:g.1628616=	NC_000020.11:g.1628616G>A	NC_000020.11:g.1628616G>C
GRCh37.p13 chr 20	NC_000020.10:g.1609262=	NC_000020.10:g.1609262G>A	NC_000020.10:g.1609262G>C

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#.

53 SubSNP, 17 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss8353226	Apr 21, 2003 (114)
2	PERLEGEN	ss69233172	May 18, 2007 (127)
3	ILLUMINA-UK	ss117457208	Feb 14, 2009 (130)
4	COMPLETE_GENOMICS	ss168864832	Jul 04, 2010 (132)
5	COMPLETE_GENOMICS	ss171819003	Jul 04, 2010 (132)
6	BUSHMAN	ss203808217	Jul 04, 2010 (132)
7	1000GENOMES	ss211985913	Jul 14, 2010 (132)
8	1000GENOMES	ss228217752	Jul 14, 2010 (132)
9	1000GENOMES	ss237735117	Jul 15, 2010 (132)
10	TISHKOFF	ss566090912	Apr 25, 2013 (138)
11	EVA-GONL	ss994469660	Aug 21, 2014 (142)
12	JMKIDD_LAB	ss1082019100	Aug 21, 2014 (142)
13	1000GENOMES	ss1363811320	Aug 21, 2014 (142)
14	DDI	ss1428974717	Apr 01, 2015 (144)
15	EVA_GENOME_DK	ss1579407916	Apr 01, 2015 (144)
16	EVA_UK10K_ALSPAC	ss1638274276	Apr 01, 2015 (144)
17	EVA_UK10K_TWINSUK	ss1681268309	Apr 01, 2015 (144)
18	EVA_DECODE	ss1698523724	Apr 01, 2015 (144)
19	HAMMER_LAB	ss1809389818	Sep 08, 2015 (146)
20	WEILL_CORNELL_DGM	ss1937978439	Feb 12, 2016 (147)
21	GENOMED	ss1969074036	Jul 19, 2016 (147)
22	JJLAB	ss2029765115	Sep 14, 2016 (149)
23	ILLUMINA	ss2094917697	Dec 20, 2016 (150)
24	ILLUMINA	ss2095112570	Dec 20, 2016 (150)
25	USC_VALOUEV	ss2158319393	Dec 20, 2016 (150)
26	HUMAN_LONGEVITY	ss2240803984	Dec 20, 2016 (150)
27	GNOMAD	ss2964727243	Nov 08, 2017 (151)
28	SWEGEN	ss3017762983	Nov 08, 2017 (151)
29	BIOINF_KMB_FNS_UNIBA	ss3028714348	Nov 08, 2017 (151)
30	CSHL	ss3352386495	Nov 08, 2017 (151)
31	ILLUMINA	ss3652547496	Oct 12, 2018 (152)
32	EGCUT_WGS	ss3684476329	Jul 13, 2019 (153)
33	EVA_DECODE	ss3706429425	Jul 13, 2019 (153)
34	ACPOP	ss3743190226	Jul 13, 2019 (153)
35	EVA	ss3758341685	Jul 13, 2019 (153)
36	PACBIO	ss3788580937	Jul 13, 2019 (153)
37	PACBIO	ss3793483895	Jul 13, 2019 (153)
38	PACBIO	ss3798370998	Jul 13, 2019 (153)
39	KHV_HUMAN_GENOMES	ss3821513919	Jul 13, 2019 (153)
40	EVA	ss3835551901	Apr 27, 2020 (154)
41	EVA	ss3841399334	Apr 27, 2020 (154)
42	EVA	ss3846906675	Apr 27, 2020 (154)
43	SGDP_PRJ	ss3888595803	Apr 27, 2020 (154)
44	KOGIC	ss3981702104	Apr 27, 2020 (154)
45	TOPMED	ss5080109654	Apr 27, 2021 (155)
46	1000G_HIGH_COVERAGE	ss5307860904	Oct 13, 2022 (156)
47	EVA	ss5435853956	Oct 13, 2022 (156)
48	HUGCELL_USP	ss5500283016	Oct 13, 2022 (156)
49	1000G_HIGH_COVERAGE	ss5613835181	Oct 13, 2022 (156)
50	SANFORD_IMAGENETICS	ss5662734880	Oct 13, 2022 (156)
51	EVA	ss5845354009	Oct 13, 2022 (156)
52	EVA	ss5922417779	Oct 13, 2022 (156)
53	EVA	ss5957631855	Oct 13, 2022 (156)
54	1000Genomes	NC_000020.10 - 1609262	Oct 12, 2018 (152)
55	1000Genomes_30x	NC_000020.11 - 1628616	Oct 13, 2022 (156)
56	The Avon Longitudinal Study of Parents and Children	NC_000020.10 - 1609262	Oct 12, 2018 (152)
57	Genetic variation in the Estonian population	NC_000020.10 - 1609262	Oct 12, 2018 (152)
58	The Danish reference pan genome	NC_000020.10 - 1609262	Apr 27, 2020 (154)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 544692943 (NC_000020.11:1628615:G:A 1/139972) Row 544692944 (NC_000020.11:1628615:G:C 28684/139900)	-	Apr 27, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 544692943 (NC_000020.11:1628615:G:A 1/139972) Row 544692944 (NC_000020.11:1628615:G:C 28684/139900)	-	Apr 27, 2021 (155)
61	Genome of the Netherlands Release 5	NC_000020.10 - 1609262	Apr 27, 2020 (154)
62	HapMap	NC_000020.11 - 1628616	Apr 27, 2020 (154)
63	Korean Genome Project	NC_000020.11 - 1628616	Apr 27, 2020 (154)
64	Northern Sweden	NC_000020.10 - 1609262	Jul 13, 2019 (153)
65	Qatari	NC_000020.10 - 1609262	Apr 27, 2020 (154)
66	SGDP_PRJ	NC_000020.10 - 1609262	Apr 27, 2020 (154)
67	Siberian	NC_000020.10 - 1609262	Apr 27, 2020 (154)
68	TopMed	NC_000020.11 - 1628616	Apr 27, 2021 (155)
69	UK 10K study - Twins	NC_000020.10 - 1609262	Oct 12, 2018 (152)
70	ALFA	NC_000020.11 - 1628616	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
1957252005, ss2240803984	NC_000020.11:1628615:G:A	NC_000020.11:1628615:G:A	(self)
ss117457208, ss168864832, ss171819003, ss203808217, ss211985913, ss1698523724, ss2094917697	NC_000020.9:1557261:G:C	NC_000020.11:1628615:G:C	(self)
77242058, 42753203, 30214577, 5572855, 19049887, 16475091, 20020361, 40612783, 10835747, 42753203, ss228217752, ss237735117, ss566090912, ss994469660, ss1082019100, ss1363811320, ss1428974717, ss1579407916, ss1638274276, ss1681268309, ss1809389818, ss1937978439, ss1969074036, ss2029765115, ss2095112570, ss2158319393, ss2964727243, ss3017762983, ss3352386495, ss3652547496, ss3684476329, ss3743190226, ss3758341685, ss3788580937, ss3793483895, ss3798370998, ss3835551901, ss3841399334, ss3888595803, ss5435853956, ss5662734880, ss5845354009, ss5957631855	NC_000020.10:1609261:G:C	NC_000020.11:1628615:G:C	(self)
101361116, 2050893, 38080105, 355218599, 1957252005, ss2240803984, ss3028714348, ss3706429425, ss3821513919, ss3846906675, ss3981702104, ss5080109654, ss5307860904, ss5500283016, ss5613835181, ss5922417779	NC_000020.11:1628615:G:C	NC_000020.11:1628615:G:C	(self)
ss8353226, ss69233172	NT_011387.8:1549261:G:C	NC_000020.11:1628615:G:C	(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 rs6043372

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

rs6043372