Name: rs199624
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.

rs199624

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:71504095 (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=0.492667 (68933/139918, GnomAD)
G=0.49657 (14032/28258, 14KJPN)
G=0.49648 (8321/16760, 8.3KJPN) (+ 16 more)
G=0.35539 (3829/10774, ALFA)
A=0.4422 (2832/6404, 1000G_30x)
A=0.4427 (2217/5008, 1000G)
G=0.4368 (1957/4480, Estonian)
G=0.4678 (1803/3854, ALSPAC)
G=0.4857 (1801/3708, TWINSUK)
A=0.4461 (1307/2930, KOREAN)
A=0.4574 (838/1832, Korea1K)
G=0.497 (496/998, GoNL)
A=0.472 (283/600, NorthernSweden)
A=0.278 (113/406, SGDP_PRJ)
A=0.467 (154/330, HapMap)
A=0.319 (69/216, Qatari)
A=0.356 (77/216, Vietnamese)
A=0.45 (18/40, GENOME_DK)
A=0.42 (15/36, 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	10774	A=0.64461	C=0.00000, G=0.35539
European	Sub	9122	A=0.6354	C=0.0000, G=0.3646
African	Sub	1068	A=0.6367	C=0.0000, G=0.3633
African Others	Sub	38	A=0.53	C=0.00, G=0.47
African American	Sub	1030	A=0.6408	C=0.0000, G=0.3592
Asian	Sub	20	A=0.80	C=0.00, G=0.20
East Asian	Sub	14	A=0.86	C=0.00, G=0.14
Other Asian	Sub	6	A=0.7	C=0.0, G=0.3
Latin American 1	Sub	48	A=1.00	C=0.00, G=0.00
Latin American 2	Sub	182	A=1.000	C=0.000, G=0.000
South Asian	Sub	20	A=0.90	C=0.00, G=0.10
Other	Sub	314	A=0.653	C=0.000, G=0.347

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
gnomAD - Genomes	Global	Study-wide	139918	A=0.492667	G=0.507333
gnomAD - Genomes	European	Sub	75814	A=0.52104	G=0.47896
gnomAD - Genomes	African	Sub	41906	A=0.42524	G=0.57476
gnomAD - Genomes	American	Sub	13608	A=0.55056	G=0.44944
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	A=0.5722	G=0.4278
gnomAD - Genomes	East Asian	Sub	3118	A=0.3801	G=0.6199
gnomAD - Genomes	Other	Sub	2150	A=0.4805	G=0.5195
14KJPN	JAPANESE	Study-wide	28258	A=0.50343	G=0.49657
8.3KJPN	JAPANESE	Study-wide	16760	A=0.50352	G=0.49648
Allele Frequency Aggregator	Total	Global	10774	A=0.64461	C=0.00000, G=0.35539
Allele Frequency Aggregator	European	Sub	9122	A=0.6354	C=0.0000, G=0.3646
Allele Frequency Aggregator	African	Sub	1068	A=0.6367	C=0.0000, G=0.3633
Allele Frequency Aggregator	Other	Sub	314	A=0.653	C=0.000, G=0.347
Allele Frequency Aggregator	Latin American 2	Sub	182	A=1.000	C=0.000, G=0.000
Allele Frequency Aggregator	Latin American 1	Sub	48	A=1.00	C=0.00, G=0.00
Allele Frequency Aggregator	South Asian	Sub	20	A=0.90	C=0.00, G=0.10
Allele Frequency Aggregator	Asian	Sub	20	A=0.80	C=0.00, G=0.20
1000Genomes_30x	Global	Study-wide	6404	A=0.4422	G=0.5578
1000Genomes_30x	African	Sub	1786	A=0.4115	G=0.5885
1000Genomes_30x	Europe	Sub	1266	A=0.5047	G=0.4953
1000Genomes_30x	South Asian	Sub	1202	A=0.3569	G=0.6431
1000Genomes_30x	East Asian	Sub	1170	A=0.4094	G=0.5906
1000Genomes_30x	American	Sub	980	A=0.561	G=0.439
1000Genomes	Global	Study-wide	5008	A=0.4427	G=0.5573
1000Genomes	African	Sub	1322	A=0.4213	G=0.5787
1000Genomes	East Asian	Sub	1008	A=0.4147	G=0.5853
1000Genomes	Europe	Sub	1006	A=0.5149	G=0.4851
1000Genomes	South Asian	Sub	978	A=0.349	G=0.651
1000Genomes	American	Sub	694	A=0.552	G=0.448
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.5632	G=0.4368
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.5322	G=0.4678
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.5143	G=0.4857
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.4461	G=0.5539, T=0.0000
Korean Genome Project	KOREAN	Study-wide	1832	A=0.4574	G=0.5426
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.503	G=0.497
Northern Sweden	ACPOP	Study-wide	600	A=0.472	G=0.528
SGDP_PRJ	Global	Study-wide	406	A=0.278	G=0.722
HapMap	Global	Study-wide	330	A=0.467	G=0.533
HapMap	African	Sub	120	A=0.350	G=0.650
HapMap	American	Sub	120	A=0.550	G=0.450
HapMap	Asian	Sub	90	A=0.51	G=0.49
Qatari	Global	Study-wide	216	A=0.319	G=0.681
A Vietnamese Genetic Variation Database	Global	Study-wide	216	A=0.356	G=0.644
The Danish reference pan genome	Danish	Study-wide	40	A=0.45	G=0.55
Siberian	Global	Study-wide	36	A=0.42	G=0.58

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 6	NC_000006.12:g.71504095A>C
GRCh38.p14 chr 6	NC_000006.12:g.71504095A>G
GRCh38.p14 chr 6	NC_000006.12:g.71504095A>T
GRCh37.p13 chr 6	NC_000006.11:g.72213798A>C
GRCh37.p13 chr 6	NC_000006.11:g.72213798A>G
GRCh37.p13 chr 6	NC_000006.11:g.72213798A>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 6	NC_000006.12:g.71504095=	NC_000006.12:g.71504095A>C	NC_000006.12:g.71504095A>G	NC_000006.12:g.71504095A>T
GRCh37.p13 chr 6	NC_000006.11:g.72213798=	NC_000006.11:g.72213798A>C	NC_000006.11:g.72213798A>G	NC_000006.11:g.72213798A>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#.

77 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	KWOK	ss262452	Jul 12, 2000 (79)
2	SC_JCM	ss701068	Aug 11, 2000 (89)
3	KWOK	ss1232433	Oct 04, 2000 (86)
4	KWOK	ss1233069	Oct 04, 2000 (86)
5	KWOK	ss1725762	Oct 18, 2000 (89)
6	SC_SNP	ss13053134	Dec 05, 2003 (119)
7	WI_SSAHASNP	ss14645486	Dec 05, 2003 (119)
8	HGSV	ss78607695	Dec 06, 2007 (129)
9	HGSV	ss81954436	Dec 14, 2007 (130)
10	BCMHGSC_JDW	ss93489424	Mar 24, 2008 (129)
11	BGI	ss104325734	Dec 01, 2009 (131)
12	1000GENOMES	ss110318004	Jan 24, 2009 (130)
13	1000GENOMES	ss114545509	Jan 25, 2009 (130)
14	ILLUMINA-UK	ss116537932	Feb 14, 2009 (130)
15	ENSEMBL	ss143602014	Dec 01, 2009 (131)
16	ENSEMBL	ss144043996	Dec 01, 2009 (131)
17	GMI	ss157126562	Dec 01, 2009 (131)
18	COMPLETE_GENOMICS	ss162490303	Jul 04, 2010 (132)
19	COMPLETE_GENOMICS	ss163698553	Jul 04, 2010 (132)
20	COMPLETE_GENOMICS	ss166862516	Jul 04, 2010 (132)
21	BUSHMAN	ss202003188	Jul 04, 2010 (132)
22	1000GENOMES	ss222463946	Jul 14, 2010 (132)
23	1000GENOMES	ss233528992	Jul 15, 2010 (132)
24	1000GENOMES	ss240573273	Jul 15, 2010 (132)
25	BL	ss254445979	May 09, 2011 (134)
26	GMI	ss278860965	May 04, 2012 (137)
27	GMI	ss285436209	Apr 25, 2013 (138)
28	PJP	ss293633009	May 09, 2011 (134)
29	TISHKOFF	ss559284143	Apr 25, 2013 (138)
30	SSMP	ss653240522	Apr 25, 2013 (138)
31	EVA-GONL	ss983078652	Aug 21, 2014 (142)
32	JMKIDD_LAB	ss1073720483	Aug 21, 2014 (142)
33	1000GENOMES	ss1320680044	Aug 21, 2014 (142)
34	DDI	ss1430776065	Apr 01, 2015 (144)
35	EVA_GENOME_DK	ss1581732118	Apr 01, 2015 (144)
36	EVA_DECODE	ss1592620920	Apr 01, 2015 (144)
37	EVA_UK10K_ALSPAC	ss1615853212	Apr 01, 2015 (144)
38	EVA_UK10K_TWINSUK	ss1658847245	Apr 01, 2015 (144)
39	HAMMER_LAB	ss1804496813	Sep 08, 2015 (146)
40	WEILL_CORNELL_DGM	ss1926335112	Feb 12, 2016 (147)
41	JJLAB	ss2023809500	Sep 14, 2016 (149)
42	USC_VALOUEV	ss2152001320	Dec 20, 2016 (150)
43	HUMAN_LONGEVITY	ss2285020180	Dec 20, 2016 (150)
44	SYSTEMSBIOZJU	ss2626399251	Nov 08, 2017 (151)
45	GRF	ss2707609980	Nov 08, 2017 (151)
46	GNOMAD	ss2840531328	Nov 08, 2017 (151)
47	SWEGEN	ss2999304953	Nov 08, 2017 (151)
48	BIOINF_KMB_FNS_UNIBA	ss3025697990	Nov 08, 2017 (151)
49	CSHL	ss3347042830	Nov 08, 2017 (151)
50	URBANLAB	ss3648383811	Oct 12, 2018 (152)
51	EGCUT_WGS	ss3667173971	Jul 13, 2019 (153)
52	EVA_DECODE	ss3717486761	Jul 13, 2019 (153)
53	ACPOP	ss3733629945	Jul 13, 2019 (153)
54	EVA	ss3765184800	Jul 13, 2019 (153)
55	KHV_HUMAN_GENOMES	ss3808333341	Jul 13, 2019 (153)
56	EVA	ss3829996483	Apr 26, 2020 (154)
57	EVA	ss3838478131	Apr 26, 2020 (154)
58	EVA	ss3843925179	Apr 26, 2020 (154)
59	SGDP_PRJ	ss3864870302	Apr 26, 2020 (154)
60	KRGDB	ss3911736795	Apr 26, 2020 (154)
61	KOGIC	ss3959312825	Apr 26, 2020 (154)
62	TOPMED	ss4707807581	Apr 26, 2021 (155)
63	TOPMED	ss4707807582	Apr 26, 2021 (155)
64	TOMMO_GENOMICS	ss5178122814	Apr 26, 2021 (155)
65	1000G_HIGH_COVERAGE	ss5268941620	Oct 17, 2022 (156)
66	EVA	ss5366485436	Oct 17, 2022 (156)
67	HUGCELL_USP	ss5466536639	Oct 17, 2022 (156)
68	EVA	ss5508552767	Oct 17, 2022 (156)
69	1000G_HIGH_COVERAGE	ss5555126999	Oct 17, 2022 (156)
70	SANFORD_IMAGENETICS	ss5640683242	Oct 17, 2022 (156)
71	TOMMO_GENOMICS	ss5716488482	Oct 17, 2022 (156)
72	YY_MCH	ss5807602487	Oct 17, 2022 (156)
73	EVA	ss5842444844	Oct 17, 2022 (156)
74	EVA	ss5855411970	Oct 17, 2022 (156)
75	EVA	ss5884354391	Oct 17, 2022 (156)
76	EVA	ss5969177737	Oct 17, 2022 (156)
77	EVA	ss5980375611	Oct 17, 2022 (156)
78	1000Genomes	NC_000006.11 - 72213798	Oct 12, 2018 (152)
79	1000Genomes_30x	NC_000006.12 - 71504095	Oct 17, 2022 (156)
80	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 72213798	Oct 12, 2018 (152)
81	Genetic variation in the Estonian population	NC_000006.11 - 72213798	Oct 12, 2018 (152)
82	The Danish reference pan genome	NC_000006.11 - 72213798	Apr 26, 2020 (154)
83	gnomAD - Genomes	NC_000006.12 - 71504095	Apr 26, 2021 (155)
84	Genome of the Netherlands Release 5	NC_000006.11 - 72213798	Apr 26, 2020 (154)
85	HapMap	NC_000006.12 - 71504095	Apr 26, 2020 (154)
86	KOREAN population from KRGDB	NC_000006.11 - 72213798	Apr 26, 2020 (154)
87	Korean Genome Project	NC_000006.12 - 71504095	Apr 26, 2020 (154)
88	Northern Sweden	NC_000006.11 - 72213798	Jul 13, 2019 (153)
89	Qatari	NC_000006.11 - 72213798	Apr 26, 2020 (154)
90	SGDP_PRJ	NC_000006.11 - 72213798	Apr 26, 2020 (154)
91	Siberian	NC_000006.11 - 72213798	Apr 26, 2020 (154)
92	8.3KJPN	NC_000006.11 - 72213798	Apr 26, 2021 (155)
93	14KJPN	NC_000006.12 - 71504095	Oct 17, 2022 (156)
94	TopMed Submission ignored due to conflicting rows: Row 545185139 (NC_000006.12:71504094:A:C 1/264690) Row 545185140 (NC_000006.12:71504094:A:G 135218/264690)	-	Apr 26, 2021 (155)
95	TopMed Submission ignored due to conflicting rows: Row 545185139 (NC_000006.12:71504094:A:C 1/264690) Row 545185140 (NC_000006.12:71504094:A:G 135218/264690)	-	Apr 26, 2021 (155)
96	UK 10K study - Twins	NC_000006.11 - 72213798	Oct 12, 2018 (152)
97	A Vietnamese Genetic Variation Database	NC_000006.11 - 72213798	Jul 13, 2019 (153)
98	ALFA	NC_000006.12 - 71504095	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)
rs530552	Nov 09, 2000 (89)
rs1204281	Nov 09, 2000 (89)
rs57303668	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
11755481047, ss4707807581	NC_000006.12:71504094:A:C	NC_000006.12:71504094:A:C	(self)
ss78607695, ss81954436	NC_000006.9:72270518:A:G	NC_000006.12:71504094:A:G	(self)
ss93489424, ss110318004, ss114545509, ss116537932, ss162490303, ss163698553, ss166862516, ss202003188, ss254445979, ss278860965, ss285436209, ss293633009, ss1592620920	NC_000006.10:72270518:A:G	NC_000006.12:71504094:A:G	(self)
32488187, 18100696, 12912219, 7897057, 8064036, 18914189, 6914810, 8377042, 16887282, 4517674, 36092121, 18100696, 4020878, ss222463946, ss233528992, ss240573273, ss559284143, ss653240522, ss983078652, ss1073720483, ss1320680044, ss1430776065, ss1581732118, ss1615853212, ss1658847245, ss1804496813, ss1926335112, ss2023809500, ss2152001320, ss2626399251, ss2707609980, ss2840531328, ss2999304953, ss3347042830, ss3667173971, ss3733629945, ss3765184800, ss3829996483, ss3838478131, ss3864870302, ss3911736795, ss5178122814, ss5366485436, ss5508552767, ss5640683242, ss5842444844, ss5969177737, ss5980375611	NC_000006.11:72213797:A:G	NC_000006.12:71504094:A:G	(self)
42652934, 229299260, 3161116, 15690826, 50325586, 11755481047, ss2285020180, ss3025697990, ss3648383811, ss3717486761, ss3808333341, ss3843925179, ss3959312825, ss4707807582, ss5268941620, ss5466536639, ss5555126999, ss5716488482, ss5807602487, ss5855411970, ss5884354391	NC_000006.12:71504094:A:G	NC_000006.12:71504094:A:G	(self)
ss13053134, ss14645486	NT_007299.12:10033970:A:G	NC_000006.12:71504094:A:G	(self)
ss262452, ss701068, ss1232433, ss1233069, ss1725762, ss104325734, ss143602014, ss144043996, ss157126562	NT_007299.13:10333631:A:G	NC_000006.12:71504094:A:G	(self)
18914189, ss3911736795	NC_000006.11:72213797:A:T	NC_000006.12:71504094: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 rs199624

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

rs199624