Name: rs6577137
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.

rs6577137

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:99803134 (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: C=0.268548 (71082/264690, TOPMED)
C=0.262632 (36748/139922, GnomAD)
C=0.24232 (6847/28256, 14KJPN) (+ 16 more)
C=0.24592 (4374/17786, ALFA)
C=0.24403 (4090/16760, 8.3KJPN)
C=0.2923 (1872/6404, 1000G_30x)
C=0.2911 (1458/5008, 1000G)
C=0.2411 (1080/4480, Estonian)
C=0.2141 (825/3854, ALSPAC)
C=0.2077 (770/3708, TWINSUK)
C=0.2846 (834/2930, KOREAN)
C=0.236 (236/998, GoNL)
C=0.230 (138/600, NorthernSweden)
C=0.234 (117/500, SGDP_PRJ)
C=0.273 (89/326, HapMap)
C=0.282 (61/216, Qatari)
C=0.273 (59/216, Vietnamese)
C=0.26 (12/46, Siberian)
C=0.28 (11/40, 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	17786	C=0.24592	G=0.00000, T=0.75408
European	Sub	13660	C=0.22570	G=0.00000, T=0.77430
African	Sub	2472	C=0.3345	G=0.0000, T=0.6655
African Others	Sub	94	C=0.41	G=0.00, T=0.59
African American	Sub	2378	C=0.3314	G=0.0000, T=0.6686
Asian	Sub	112	C=0.321	G=0.000, T=0.679
East Asian	Sub	86	C=0.33	G=0.00, T=0.67
Other Asian	Sub	26	C=0.31	G=0.00, T=0.69
Latin American 1	Sub	146	C=0.212	G=0.000, T=0.788
Latin American 2	Sub	610	C=0.323	G=0.000, T=0.677
South Asian	Sub	98	C=0.23	G=0.00, T=0.77
Other	Sub	688	C=0.257	G=0.000, T=0.743

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	C=0.268548	T=0.731452
gnomAD - Genomes	Global	Study-wide	139922	C=0.262632	T=0.737368
gnomAD - Genomes	European	Sub	75818	C=0.21846	T=0.78154
gnomAD - Genomes	African	Sub	41882	C=0.33370	T=0.66630
gnomAD - Genomes	American	Sub	13634	C=0.28862	T=0.71138
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	C=0.2386	T=0.7614
gnomAD - Genomes	East Asian	Sub	3120	C=0.2913	T=0.7087
gnomAD - Genomes	Other	Sub	2148	C=0.2668	T=0.7332
14KJPN	JAPANESE	Study-wide	28256	C=0.24232	T=0.75768
Allele Frequency Aggregator	Total	Global	17786	C=0.24592	G=0.00000, T=0.75408
Allele Frequency Aggregator	European	Sub	13660	C=0.22570	G=0.00000, T=0.77430
Allele Frequency Aggregator	African	Sub	2472	C=0.3345	G=0.0000, T=0.6655
Allele Frequency Aggregator	Other	Sub	688	C=0.257	G=0.000, T=0.743
Allele Frequency Aggregator	Latin American 2	Sub	610	C=0.323	G=0.000, T=0.677
Allele Frequency Aggregator	Latin American 1	Sub	146	C=0.212	G=0.000, T=0.788
Allele Frequency Aggregator	Asian	Sub	112	C=0.321	G=0.000, T=0.679
Allele Frequency Aggregator	South Asian	Sub	98	C=0.23	G=0.00, T=0.77
8.3KJPN	JAPANESE	Study-wide	16760	C=0.24403	T=0.75597
1000Genomes_30x	Global	Study-wide	6404	C=0.2923	T=0.7077
1000Genomes_30x	African	Sub	1786	C=0.3751	T=0.6249
1000Genomes_30x	Europe	Sub	1266	C=0.2227	T=0.7773
1000Genomes_30x	South Asian	Sub	1202	C=0.2479	T=0.7521
1000Genomes_30x	East Asian	Sub	1170	C=0.2932	T=0.7068
1000Genomes_30x	American	Sub	980	C=0.285	T=0.715
1000Genomes	Global	Study-wide	5008	C=0.2911	T=0.7089
1000Genomes	African	Sub	1322	C=0.3790	T=0.6210
1000Genomes	East Asian	Sub	1008	C=0.2907	T=0.7093
1000Genomes	Europe	Sub	1006	C=0.2127	T=0.7873
1000Genomes	South Asian	Sub	978	C=0.248	T=0.752
1000Genomes	American	Sub	694	C=0.298	T=0.702
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.2411	T=0.7589
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.2141	T=0.7859
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.2077	T=0.7923
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.2846	A=0.0000, T=0.7154
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.236	T=0.764
Northern Sweden	ACPOP	Study-wide	600	C=0.230	T=0.770
SGDP_PRJ	Global	Study-wide	500	C=0.234	T=0.766
HapMap	Global	Study-wide	326	C=0.273	T=0.727
HapMap	African	Sub	120	C=0.392	T=0.608
HapMap	American	Sub	116	C=0.172	T=0.828
HapMap	Asian	Sub	90	C=0.24	T=0.76
Qatari	Global	Study-wide	216	C=0.282	T=0.718
A Vietnamese Genetic Variation Database	Global	Study-wide	216	C=0.273	T=0.727
Siberian	Global	Study-wide	46	C=0.26	T=0.74
The Danish reference pan genome	Danish	Study-wide	40	C=0.28	T=0.72

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.99803134C>A
GRCh38.p14 chr 1	NC_000001.11:g.99803134C>G
GRCh38.p14 chr 1	NC_000001.11:g.99803134C>T
GRCh37.p13 chr 1	NC_000001.10:g.100268690C>A
GRCh37.p13 chr 1	NC_000001.10:g.100268690C>G
GRCh37.p13 chr 1	NC_000001.10:g.100268690C>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 1	NC_000001.11:g.99803134=	NC_000001.11:g.99803134C>A	NC_000001.11:g.99803134C>G	NC_000001.11:g.99803134C>T
GRCh37.p13 chr 1	NC_000001.10:g.100268690=	NC_000001.10:g.100268690C>A	NC_000001.10:g.100268690C>G	NC_000001.10:g.100268690C>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, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCM_SSAHASNP	ss9826552	Jul 11, 2003 (116)
2	WI_SSAHASNP	ss11358229	Jul 11, 2003 (116)
3	WI_SSAHASNP	ss13458074	Dec 05, 2003 (123)
4	BCM_SSAHASNP	ss13541515	Dec 05, 2003 (123)
5	CSHL-HAPMAP	ss17348536	Feb 27, 2004 (123)
6	ABI	ss41221602	Mar 14, 2006 (126)
7	HGSV	ss80940576	Dec 14, 2007 (130)
8	HGSV	ss84109304	Dec 14, 2007 (130)
9	BCMHGSC_JDW	ss87657712	Mar 23, 2008 (129)
10	HUMANGENOME_JCVI	ss99232760	Feb 03, 2009 (130)
11	BGI	ss106589651	Feb 03, 2009 (130)
12	1000GENOMES	ss108455029	Jan 23, 2009 (130)
13	ILLUMINA-UK	ss118920316	Dec 01, 2009 (131)
14	ENSEMBL	ss131629838	Dec 01, 2009 (131)
15	GMI	ss155418435	Dec 01, 2009 (131)
16	COMPLETE_GENOMICS	ss164873230	Jul 04, 2010 (132)
17	COMPLETE_GENOMICS	ss166905811	Jul 04, 2010 (132)
18	BUSHMAN	ss198835158	Jul 04, 2010 (132)
19	BCM-HGSC-SUB	ss205432988	Jul 04, 2010 (132)
20	1000GENOMES	ss210598004	Jul 14, 2010 (132)
21	1000GENOMES	ss218549637	Jul 14, 2010 (132)
22	1000GENOMES	ss230657404	Jul 14, 2010 (132)
23	1000GENOMES	ss238324225	Jul 15, 2010 (132)
24	BL	ss253316618	May 09, 2011 (134)
25	GMI	ss275945947	May 04, 2012 (137)
26	GMI	ss284105927	Apr 25, 2013 (138)
27	PJP	ss290580909	May 09, 2011 (134)
28	TISHKOFF	ss554482461	Apr 25, 2013 (138)
29	SSMP	ss648254990	Apr 25, 2013 (138)
30	EVA-GONL	ss975484752	Aug 21, 2014 (142)
31	JMKIDD_LAB	ss1068128997	Aug 21, 2014 (142)
32	1000GENOMES	ss1292113660	Aug 21, 2014 (142)
33	DDI	ss1425911559	Apr 01, 2015 (144)
34	EVA_GENOME_DK	ss1574272670	Apr 01, 2015 (144)
35	EVA_DECODE	ss1584862998	Apr 01, 2015 (144)
36	EVA_UK10K_ALSPAC	ss1600820378	Apr 01, 2015 (144)
37	EVA_UK10K_TWINSUK	ss1643814411	Apr 01, 2015 (144)
38	HAMMER_LAB	ss1794810014	Sep 08, 2015 (146)
39	WEILL_CORNELL_DGM	ss1918684240	Feb 12, 2016 (147)
40	JJLAB	ss2019863748	Sep 14, 2016 (149)
41	USC_VALOUEV	ss2147882286	Dec 20, 2016 (150)
42	HUMAN_LONGEVITY	ss2165043759	Dec 20, 2016 (150)
43	SYSTEMSBIOZJU	ss2624443265	Nov 08, 2017 (151)
44	GRF	ss2697809763	Nov 08, 2017 (151)
45	GNOMAD	ss2758654390	Nov 08, 2017 (151)
46	SWEGEN	ss2987308025	Nov 08, 2017 (151)
47	BIOINF_KMB_FNS_UNIBA	ss3023695418	Nov 08, 2017 (151)
48	CSHL	ss3343596727	Nov 08, 2017 (151)
49	URBANLAB	ss3646731919	Oct 11, 2018 (152)
50	EGCUT_WGS	ss3655393361	Jul 12, 2019 (153)
51	EVA_DECODE	ss3687370194	Jul 12, 2019 (153)
52	ACPOP	ss3727315533	Jul 12, 2019 (153)
53	EVA	ss3746575974	Jul 12, 2019 (153)
54	PACBIO	ss3783496466	Jul 12, 2019 (153)
55	PACBIO	ss3789141417	Jul 12, 2019 (153)
56	PACBIO	ss3794014260	Jul 12, 2019 (153)
57	KHV_HUMAN_GENOMES	ss3799576820	Jul 12, 2019 (153)
58	EVA	ss3826327377	Apr 25, 2020 (154)
59	EVA	ss3836554046	Apr 25, 2020 (154)
60	EVA	ss3841962050	Apr 25, 2020 (154)
61	SGDP_PRJ	ss3849480738	Apr 25, 2020 (154)
62	KRGDB	ss3894558947	Apr 25, 2020 (154)
63	TOPMED	ss4460749882	Apr 25, 2021 (155)
64	TOMMO_GENOMICS	ss5145319692	Apr 25, 2021 (155)
65	1000G_HIGH_COVERAGE	ss5243326871	Oct 12, 2022 (156)
66	EVA	ss5320683085	Oct 12, 2022 (156)
67	HUGCELL_USP	ss5444278931	Oct 12, 2022 (156)
68	EVA	ss5505965040	Oct 12, 2022 (156)
69	1000G_HIGH_COVERAGE	ss5516172161	Oct 12, 2022 (156)
70	SANFORD_IMAGENETICS	ss5626134876	Oct 12, 2022 (156)
71	TOMMO_GENOMICS	ss5670480926	Oct 12, 2022 (156)
72	YY_MCH	ss5800861113	Oct 12, 2022 (156)
73	EVA	ss5832374191	Oct 12, 2022 (156)
74	EVA	ss5849034379	Oct 12, 2022 (156)
75	EVA	ss5909479594	Oct 12, 2022 (156)
76	EVA	ss5937996149	Oct 12, 2022 (156)
77	EVA	ss5979973870	Oct 12, 2022 (156)
78	1000Genomes	NC_000001.10 - 100268690	Oct 11, 2018 (152)
79	1000Genomes_30x	NC_000001.11 - 99803134	Oct 12, 2022 (156)
80	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 100268690	Oct 11, 2018 (152)
81	Genetic variation in the Estonian population	NC_000001.10 - 100268690	Oct 11, 2018 (152)
82	The Danish reference pan genome	NC_000001.10 - 100268690	Apr 25, 2020 (154)
83	gnomAD - Genomes	NC_000001.11 - 99803134	Apr 25, 2021 (155)
84	Genome of the Netherlands Release 5	NC_000001.10 - 100268690	Apr 25, 2020 (154)
85	HapMap	NC_000001.11 - 99803134	Apr 25, 2020 (154)
86	KOREAN population from KRGDB	NC_000001.10 - 100268690	Apr 25, 2020 (154)
87	Northern Sweden	NC_000001.10 - 100268690	Jul 12, 2019 (153)
88	Qatari	NC_000001.10 - 100268690	Apr 25, 2020 (154)
89	SGDP_PRJ	NC_000001.10 - 100268690	Apr 25, 2020 (154)
90	Siberian	NC_000001.10 - 100268690	Apr 25, 2020 (154)
91	8.3KJPN	NC_000001.10 - 100268690	Apr 25, 2021 (155)
92	14KJPN	NC_000001.11 - 99803134	Oct 12, 2022 (156)
93	TopMed	NC_000001.11 - 99803134	Apr 25, 2021 (155)
94	UK 10K study - Twins	NC_000001.10 - 100268690	Oct 11, 2018 (152)
95	A Vietnamese Genetic Variation Database	NC_000001.10 - 100268690	Jul 12, 2019 (153)
96	ALFA	NC_000001.11 - 99803134	Apr 25, 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)
rs9324413	Sep 24, 2004 (123)
rs56761152	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
1736341, ss3894558947	NC_000001.10:100268689:C:A	NC_000001.11:99803133:C:A	(self)
5715889875	NC_000001.11:99803133:C:G	NC_000001.11:99803133:C:G	(self)
ss80940576, ss84109304	NC_000001.8:99980710:C:T	NC_000001.11:99803133:C:T	(self)
ss87657712, ss108455029, ss118920316, ss164873230, ss166905811, ss198835158, ss205432988, ss210598004, ss253316618, ss275945947, ss284105927, ss290580909, ss1584862998	NC_000001.9:100041277:C:T	NC_000001.11:99803133:C:T	(self)
2877448, 1587614, 1131609, 1629578, 688831, 1736341, 600398, 726170, 1497718, 398640, 3288999, 1587614, 342009, ss218549637, ss230657404, ss238324225, ss554482461, ss648254990, ss975484752, ss1068128997, ss1292113660, ss1425911559, ss1574272670, ss1600820378, ss1643814411, ss1794810014, ss1918684240, ss2019863748, ss2147882286, ss2624443265, ss2697809763, ss2758654390, ss2987308025, ss3343596727, ss3655393361, ss3727315533, ss3746575974, ss3783496466, ss3789141417, ss3794014260, ss3826327377, ss3836554046, ss3849480738, ss3894558947, ss5145319692, ss5320683085, ss5505965040, ss5626134876, ss5832374191, ss5937996149, ss5979973870	NC_000001.10:100268689:C:T	NC_000001.11:99803133:C:T	(self)
3698096, 20339285, 137057, 4318030, 24356217, 5715889875, ss2165043759, ss3023695418, ss3646731919, ss3687370194, ss3799576820, ss3841962050, ss4460749882, ss5243326871, ss5444278931, ss5516172161, ss5670480926, ss5800861113, ss5849034379, ss5909479594	NC_000001.11:99803133:C:T	NC_000001.11:99803133:C:T	(self)
ss9826552, ss11358229	NT_028050.12:1142360:C:T	NC_000001.11:99803133:C:T	(self)
ss13458074, ss13541515, ss17348536	NT_028050.13:8457633:C:T	NC_000001.11:99803133:C:T	(self)
ss41221602, ss99232760, ss106589651, ss131629838, ss155418435	NT_032977.9:70240607:C:T	NC_000001.11:99803133: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 rs6577137

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

rs6577137