Name: rs6637197
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.

rs6637197

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chrX:144281548 (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: C>A / C>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.162304 (30097/185436, ALFA)
T=0.23052 (5122/22219, 14KJPN)
T=0.23266 (2988/12843, 8.3KJPN) (+ 12 more)
T=0.2323 (1116/4805, 1000G_30x)
T=0.2268 (856/3775, 1000G)
T=0.1419 (526/3708, TWINSUK)
T=0.2625 (769/2930, KOREAN)
T=0.1423 (411/2889, ALSPAC)
T=0.2487 (470/1890, HapMap)
T=0.2504 (283/1130, Daghestan)
C=0.253 (38/150, SGDP_PRJ)
T=0.185 (20/108, Qatari)
T=0.25 (12/48, Vietnamese)
T=0.17 (7/40, GENOME_DK)
C=0.2 (2/8, 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	185436	C=0.837696	A=0.000000, G=0.000000, T=0.162304
European	Sub	166096	C=0.846842	A=0.000000, G=0.000000, T=0.153158
African	Sub	4889	C=0.8718	A=0.0000, G=0.0000, T=0.1282
African Others	Sub	180	C=0.889	A=0.000, G=0.000, T=0.111
African American	Sub	4709	C=0.8711	A=0.0000, G=0.0000, T=0.1289
Asian	Sub	3588	C=0.7547	A=0.0000, G=0.0000, T=0.2453
East Asian	Sub	2934	C=0.7679	A=0.0000, G=0.0000, T=0.2321
Other Asian	Sub	654	C=0.696	A=0.000, G=0.000, T=0.304
Latin American 1	Sub	518	C=0.792	A=0.000, G=0.000, T=0.208
Latin American 2	Sub	5012	C=0.5884	A=0.0000, G=0.0000, T=0.4116
South Asian	Sub	308	C=0.860	A=0.000, G=0.000, T=0.140
Other	Sub	5025	C=0.8135	A=0.0000, G=0.0000, T=0.1865

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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	185436	C=0.837696	A=0.000000, G=0.000000, T=0.162304
Allele Frequency Aggregator	European	Sub	166096	C=0.846842	A=0.000000, G=0.000000, T=0.153158
Allele Frequency Aggregator	Other	Sub	5025	C=0.8135	A=0.0000, G=0.0000, T=0.1865
Allele Frequency Aggregator	Latin American 2	Sub	5012	C=0.5884	A=0.0000, G=0.0000, T=0.4116
Allele Frequency Aggregator	African	Sub	4889	C=0.8718	A=0.0000, G=0.0000, T=0.1282
Allele Frequency Aggregator	Asian	Sub	3588	C=0.7547	A=0.0000, G=0.0000, T=0.2453
Allele Frequency Aggregator	Latin American 1	Sub	518	C=0.792	A=0.000, G=0.000, T=0.208
Allele Frequency Aggregator	South Asian	Sub	308	C=0.860	A=0.000, G=0.000, T=0.140
14KJPN	JAPANESE	Study-wide	22219	C=0.76948	T=0.23052
8.3KJPN	JAPANESE	Study-wide	12843	C=0.76734	T=0.23266
1000Genomes_30x	Global	Study-wide	4805	C=0.7677	T=0.2323
1000Genomes_30x	African	Sub	1328	C=0.7636	T=0.2364
1000Genomes_30x	Europe	Sub	961	C=0.858	T=0.142
1000Genomes_30x	South Asian	Sub	883	C=0.813	T=0.187
1000Genomes_30x	East Asian	Sub	878	C=0.765	T=0.235
1000Genomes_30x	American	Sub	755	C=0.609	T=0.391
1000Genomes	Global	Study-wide	3775	C=0.7732	T=0.2268
1000Genomes	African	Sub	1003	C=0.7687	T=0.2313
1000Genomes	Europe	Sub	766	C=0.856	T=0.144
1000Genomes	East Asian	Sub	764	C=0.763	T=0.237
1000Genomes	South Asian	Sub	718	C=0.813	T=0.187
1000Genomes	American	Sub	524	C=0.620	T=0.380
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.8581	T=0.1419
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.7375	T=0.2625
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	2889	C=0.8577	T=0.1423
HapMap	Global	Study-wide	1890	C=0.7513	T=0.2487
HapMap	American	Sub	770	C=0.781	T=0.219
HapMap	African	Sub	692	C=0.688	T=0.312
HapMap	Asian	Sub	252	C=0.754	T=0.246
HapMap	Europe	Sub	176	C=0.869	T=0.131
Genome-wide autozygosity in Daghestan	Global	Study-wide	1130	C=0.7496	T=0.2504
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	C=0.702	T=0.298
Genome-wide autozygosity in Daghestan	Near_East	Sub	142	C=0.817	T=0.183
Genome-wide autozygosity in Daghestan	Central Asia	Sub	118	C=0.797	T=0.203
Genome-wide autozygosity in Daghestan	Europe	Sub	108	C=0.815	T=0.185
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	C=0.88	T=0.12
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	C=0.61	T=0.39
SGDP_PRJ	Global	Study-wide	150	C=0.253	T=0.747
Qatari	Global	Study-wide	108	C=0.815	T=0.185
A Vietnamese Genetic Variation Database	Global	Study-wide	48	C=0.75	T=0.25
The Danish reference pan genome	Danish	Study-wide	40	C=0.82	T=0.17
Siberian	Global	Study-wide	8	C=0.2	T=0.8

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 X	NC_000023.11:g.144281548C>A
GRCh38.p14 chr X	NC_000023.11:g.144281548C>G
GRCh38.p14 chr X	NC_000023.11:g.144281548C>T
GRCh37.p13 chr X fix patch HG1458_PATCH	NW_004070889.1:g.1070269C>A
GRCh37.p13 chr X fix patch HG1458_PATCH	NW_004070889.1:g.1070269C>G
GRCh37.p13 chr X fix patch HG1458_PATCH	NW_004070889.1:g.1070269C>T
GRCh37.p13 chr X	NC_000023.10:g.143364654C>A
GRCh37.p13 chr X	NC_000023.10:g.143364654C>G
GRCh37.p13 chr X	NC_000023.10:g.143364654C>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	C=	A	G	T
GRCh38.p14 chr X	NC_000023.11:g.144281548=	NC_000023.11:g.144281548C>A	NC_000023.11:g.144281548C>G	NC_000023.11:g.144281548C>T
GRCh37.p13 chr X fix patch HG1458_PATCH	NW_004070889.1:g.1070269=	NW_004070889.1:g.1070269C>A	NW_004070889.1:g.1070269C>G	NW_004070889.1:g.1070269C>T
GRCh37.p13 chr X	NC_000023.10:g.143364654=	NC_000023.10:g.143364654C>A	NC_000023.10:g.143364654C>G	NC_000023.10:g.143364654C>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#.

91 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss8535169	Jul 11, 2003 (116)
2	ILLUMINA	ss75237245	Dec 06, 2007 (129)
3	BGI	ss105771546	Feb 04, 2009 (130)
4	1000GENOMES	ss113041820	Jan 25, 2009 (130)
5	1000GENOMES	ss115262362	Jan 25, 2009 (130)
6	KRIBB_YJKIM	ss119518499	Dec 01, 2009 (131)
7	ILLUMINA	ss160793540	Dec 01, 2009 (131)
8	COMPLETE_GENOMICS	ss165735660	Jul 04, 2010 (132)
9	ILLUMINA	ss174052580	Jul 04, 2010 (132)
10	GMI	ss283891941	May 04, 2012 (137)
11	PJP	ss294517060	May 09, 2011 (134)
12	1000GENOMES	ss341860987	May 09, 2011 (134)
13	ILLUMINA	ss481303629	May 04, 2012 (137)
14	ILLUMINA	ss481328563	May 04, 2012 (137)
15	ILLUMINA	ss482310932	Sep 11, 2015 (146)
16	ILLUMINA	ss485447034	May 04, 2012 (137)
17	ILLUMINA	ss537372969	Sep 11, 2015 (146)
18	TISHKOFF	ss567078963	Apr 25, 2013 (138)
19	SSMP	ss663058488	Apr 25, 2013 (138)
20	ILLUMINA	ss778574916	Sep 11, 2015 (146)
21	ILLUMINA	ss783168969	Sep 11, 2015 (146)
22	ILLUMINA	ss784124565	Sep 11, 2015 (146)
23	ILLUMINA	ss832428481	Sep 11, 2015 (146)
24	ILLUMINA	ss834031979	Sep 11, 2015 (146)
25	JMKIDD_LAB	ss1083176198	Apr 09, 2015 (144)
26	HAMMER_LAB	ss1397801705	Sep 08, 2015 (146)
27	DDI	ss1432135168	Apr 09, 2015 (144)
28	1000GENOMES	ss1556466776	Apr 09, 2015 (144)
29	EVA_GENOME_DK	ss1583532296	Apr 09, 2015 (144)
30	EVA_UK10K_ALSPAC	ss1641675574	Apr 09, 2015 (144)
31	EVA_UK10K_TWINSUK	ss1684669607	Apr 09, 2015 (144)
32	ILLUMINA	ss1752799077	Sep 11, 2015 (146)
33	WEILL_CORNELL_DGM	ss1939796412	Feb 17, 2016 (147)
34	ILLUMINA	ss1945980211	Feb 17, 2016 (147)
35	ILLUMINA	ss1958223552	Feb 17, 2016 (147)
36	GENOMED	ss1971447601	Sep 28, 2016 (149)
37	USC_VALOUEV	ss2159277938	Oct 13, 2018 (152)
38	HUMAN_LONGEVITY	ss2320902236	Dec 20, 2016 (150)
39	SYSTEMSBIOZJU	ss2629789675	Oct 13, 2018 (152)
40	ILLUMINA	ss2634988755	Oct 13, 2018 (152)
41	GRF	ss2710393086	Oct 13, 2018 (152)
42	ILLUMINA	ss2711190255	Oct 13, 2018 (152)
43	GNOMAD	ss2984172180	Oct 13, 2018 (152)
44	SWEGEN	ss3020739031	Oct 13, 2018 (152)
45	ILLUMINA	ss3023041949	Oct 13, 2018 (152)
46	BIOINF_KMB_FNS_UNIBA	ss3029133634	Nov 08, 2017 (151)
47	CSHL	ss3353020050	Oct 13, 2018 (152)
48	ILLUMINA	ss3626003054	Oct 13, 2018 (152)
49	ILLUMINA	ss3630493609	Oct 13, 2018 (152)
50	ILLUMINA	ss3632872661	Oct 13, 2018 (152)
51	ILLUMINA	ss3633567670	Oct 13, 2018 (152)
52	ILLUMINA	ss3634297790	Oct 13, 2018 (152)
53	ILLUMINA	ss3635260944	Oct 13, 2018 (152)
54	ILLUMINA	ss3635974816	Oct 13, 2018 (152)
55	ILLUMINA	ss3637010274	Oct 13, 2018 (152)
56	ILLUMINA	ss3637728427	Oct 13, 2018 (152)
57	ILLUMINA	ss3638881243	Oct 13, 2018 (152)
58	ILLUMINA	ss3640968416	Oct 13, 2018 (152)
59	ILLUMINA	ss3643804791	Oct 13, 2018 (152)
60	ILLUMINA	ss3645019154	Oct 13, 2018 (152)
61	ILLUMINA	ss3653600026	Oct 13, 2018 (152)
62	ILLUMINA	ss3726706180	Jul 14, 2019 (153)
63	ILLUMINA	ss3744334611	Jul 14, 2019 (153)
64	ILLUMINA	ss3745561466	Jul 14, 2019 (153)
65	EVA	ss3770704097	Jul 14, 2019 (153)
66	ILLUMINA	ss3773053085	Jul 14, 2019 (153)
67	PACBIO	ss3788963493	Jul 14, 2019 (153)
68	PACBIO	ss3793832086	Jul 14, 2019 (153)
69	PACBIO	ss3798717004	Jul 14, 2019 (153)
70	KHV_HUMAN_GENOMES	ss3823467412	Jul 14, 2019 (153)
71	EVA	ss3841771519	Apr 27, 2020 (154)
72	EVA	ss3847309743	Apr 27, 2020 (154)
73	SGDP_PRJ	ss3892415508	Apr 27, 2020 (154)
74	KRGDB	ss3943140679	Apr 27, 2020 (154)
75	EVA	ss3984770102	Apr 26, 2021 (155)
76	GNOMAD	ss4379923812	Apr 26, 2021 (155)
77	GNOMAD	ss4379923813	Apr 26, 2021 (155)
78	GNOMAD	ss4379923814	Apr 26, 2021 (155)
79	TOPMED	ss5139803537	Apr 26, 2021 (155)
80	TOPMED	ss5139803538	Apr 26, 2021 (155)
81	TOMMO_GENOMICS	ss5236583732	Apr 26, 2021 (155)
82	1000G_HIGH_COVERAGE	ss5314178274	Oct 13, 2022 (156)
83	EVA	ss5316100873	Oct 13, 2022 (156)
84	HUGCELL_USP	ss5505551975	Oct 13, 2022 (156)
85	1000G_HIGH_COVERAGE	ss5623411638	Oct 13, 2022 (156)
86	SANFORD_IMAGENETICS	ss5666006172	Oct 13, 2022 (156)
87	TOMMO_GENOMICS	ss5799050728	Oct 13, 2022 (156)
88	YY_MCH	ss5819412282	Oct 13, 2022 (156)
89	EVA	ss5848239996	Oct 13, 2022 (156)
90	EVA	ss5857223693	Oct 13, 2022 (156)
91	EVA	ss5979141882	Oct 13, 2022 (156)
92	1000Genomes	NC_000023.10 - 143364654	Oct 13, 2018 (152)
93	1000Genomes_30x	NC_000023.11 - 144281548	Oct 13, 2022 (156)
94	The Avon Longitudinal Study of Parents and Children	NC_000023.10 - 143364654	Oct 13, 2018 (152)
95	Genome-wide autozygosity in Daghestan	NC_000023.9 - 143192340	Apr 27, 2020 (154)
96	The Danish reference pan genome	NC_000023.10 - 143364654	Apr 27, 2020 (154)
97	gnomAD - Genomes Submission ignored due to conflicting rows: Row 593202966 (NC_000023.11:144281547:C:A 2/103810) Row 593202967 (NC_000023.11:144281547:C:G 2/103810) Row 593202968 (NC_000023.11:144281547:C:T 19736/103778)	-	Apr 26, 2021 (155)
98	gnomAD - Genomes Submission ignored due to conflicting rows: Row 593202966 (NC_000023.11:144281547:C:A 2/103810) Row 593202967 (NC_000023.11:144281547:C:G 2/103810) Row 593202968 (NC_000023.11:144281547:C:T 19736/103778)	-	Apr 26, 2021 (155)
99	gnomAD - Genomes Submission ignored due to conflicting rows: Row 593202966 (NC_000023.11:144281547:C:A 2/103810) Row 593202967 (NC_000023.11:144281547:C:G 2/103810) Row 593202968 (NC_000023.11:144281547:C:T 19736/103778)	-	Apr 26, 2021 (155)
100	HapMap	NC_000023.11 - 144281548	Apr 27, 2020 (154)
101	KOREAN population from KRGDB	NC_000023.10 - 143364654	Apr 27, 2020 (154)
102	Qatari	NC_000023.10 - 143364654	Apr 27, 2020 (154)
103	SGDP_PRJ	NC_000023.10 - 143364654	Apr 27, 2020 (154)
104	Siberian	NC_000023.10 - 143364654	Apr 27, 2020 (154)
105	8.3KJPN	NC_000023.10 - 143364654	Apr 26, 2021 (155)
106	14KJPN	NC_000023.11 - 144281548	Oct 13, 2022 (156)
107	TopMed Submission ignored due to conflicting rows: Row 703409894 (NC_000023.11:144281547:C:G 2/264690) Row 703409895 (NC_000023.11:144281547:C:T 56752/264690)	-	Apr 26, 2021 (155)
108	TopMed Submission ignored due to conflicting rows: Row 703409894 (NC_000023.11:144281547:C:G 2/264690) Row 703409895 (NC_000023.11:144281547:C:T 56752/264690)	-	Apr 26, 2021 (155)
109	UK 10K study - Twins	NC_000023.10 - 143364654	Oct 13, 2018 (152)
110	A Vietnamese Genetic Variation Database	NC_000023.10 - 143364654	Jul 14, 2019 (153)
111	ALFA	NC_000023.11 - 144281548	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)
rs6649638	Aug 26, 2003 (117)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
6069476217, ss2320902236, ss4379923812	NC_000023.11:144281547:C:A	NC_000023.11:144281547:C:A	(self)
6069476217, ss4379923813, ss5139803537	NC_000023.11:144281547:C:G	NC_000023.11:144281547:C:G	(self)
553516, ss113041820, ss115262362, ss165735660, ss283891941, ss294517060, ss481303629, ss1397801705, ss3643804791	NC_000023.9:143192339:C:T	NC_000023.11:144281547:C:T	(self)
84422274, 46492083, 9697233, 50318073, 21838334, 44432488, 11794292, 94553039, 46492083, 10215740, ss341860987, ss481328563, ss482310932, ss485447034, ss537372969, ss567078963, ss663058488, ss778574916, ss783168969, ss784124565, ss832428481, ss834031979, ss1083176198, ss1432135168, ss1556466776, ss1583532296, ss1641675574, ss1684669607, ss1752799077, ss1939796412, ss1945980211, ss1958223552, ss1971447601, ss2159277938, ss2629789675, ss2634988755, ss2710393086, ss2711190255, ss2984172180, ss3020739031, ss3023041949, ss3353020050, ss3626003054, ss3630493609, ss3632872661, ss3633567670, ss3634297790, ss3635260944, ss3635974816, ss3637010274, ss3637728427, ss3638881243, ss3640968416, ss3645019154, ss3653600026, ss3744334611, ss3745561466, ss3770704097, ss3773053085, ss3788963493, ss3793832086, ss3798717004, ss3841771519, ss3892415508, ss3943140679, ss3984770102, ss5236583732, ss5316100873, ss5666006172, ss5848239996, ss5979141882	NC_000023.10:143364653:C:T	NC_000023.11:144281547:C:T	(self)
110937573, 4049002, 132887832, 6069476217, ss2320902236, ss3029133634, ss3726706180, ss3823467412, ss3847309743, ss4379923814, ss5139803538, ss5314178274, ss5505551975, ss5623411638, ss5799050728, ss5819412282, ss5857223693	NC_000023.11:144281547:C:T	NC_000023.11:144281547:C:T	(self)
ss8535169	NT_011786.13:18921066:C:T	NC_000023.11:144281547:C:T	(self)
ss75237245, ss105771546, ss119518499, ss160793540, ss174052580	NT_011786.16:27632363:C:T	NC_000023.11:144281547:C: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 rs6637197

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs6637197