Name: rs6047676
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.

rs6047676

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr20:21862251 (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>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.363470 (96207/264690, TOPMED)
C=0.353371 (49443/139918, GnomAD)
C=0.39837 (11257/28258, 14KJPN) (+ 18 more)
C=0.35832 (7769/21682, ALFA)
C=0.39702 (6654/16760, 8.3KJPN)
C=0.3848 (2464/6404, 1000G_30x)
C=0.3928 (1967/5008, 1000G)
C=0.3817 (1710/4480, Estonian)
C=0.3993 (1539/3854, ALSPAC)
C=0.3994 (1481/3708, TWINSUK)
C=0.3648 (1069/2930, KOREAN)
C=0.3455 (633/1832, Korea1K)
C=0.4718 (535/1134, Daghestan)
C=0.399 (398/998, GoNL)
C=0.338 (203/600, NorthernSweden)
C=0.293 (116/396, SGDP_PRJ)
C=0.344 (112/326, HapMap)
C=0.417 (90/216, Qatari)
C=0.495 (105/212, Vietnamese)
C=0.30 (14/46, Siberian)
C=0.45 (18/40, 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	21682	C=0.35832	T=0.64168
European	Sub	14370	C=0.40647	T=0.59353
African	Sub	5584	C=0.2104	T=0.7896
African Others	Sub	198	C=0.202	T=0.798
African American	Sub	5386	C=0.2107	T=0.7893
Asian	Sub	114	C=0.360	T=0.640
East Asian	Sub	88	C=0.40	T=0.60
Other Asian	Sub	26	C=0.23	T=0.77
Latin American 1	Sub	146	C=0.479	T=0.521
Latin American 2	Sub	610	C=0.500	T=0.500
South Asian	Sub	100	C=0.52	T=0.48
Other	Sub	758	C=0.376	T=0.624

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=0.363470	T=0.636530
gnomAD - Genomes	Global	Study-wide	139918	C=0.353371	T=0.646629
gnomAD - Genomes	European	Sub	75770	C=0.40463	T=0.59537
gnomAD - Genomes	African	Sub	41920	C=0.20952	T=0.79048
gnomAD - Genomes	American	Sub	13630	C=0.48305	T=0.51695
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	C=0.3982	T=0.6018
gnomAD - Genomes	East Asian	Sub	3126	C=0.3960	T=0.6040
gnomAD - Genomes	Other	Sub	2152	C=0.3982	T=0.6018
14KJPN	JAPANESE	Study-wide	28258	C=0.39837	T=0.60163
Allele Frequency Aggregator	Total	Global	21682	C=0.35832	T=0.64168
Allele Frequency Aggregator	European	Sub	14370	C=0.40647	T=0.59353
Allele Frequency Aggregator	African	Sub	5584	C=0.2104	T=0.7896
Allele Frequency Aggregator	Other	Sub	758	C=0.376	T=0.624
Allele Frequency Aggregator	Latin American 2	Sub	610	C=0.500	T=0.500
Allele Frequency Aggregator	Latin American 1	Sub	146	C=0.479	T=0.521
Allele Frequency Aggregator	Asian	Sub	114	C=0.360	T=0.640
Allele Frequency Aggregator	South Asian	Sub	100	C=0.52	T=0.48
8.3KJPN	JAPANESE	Study-wide	16760	C=0.39702	T=0.60298
1000Genomes_30x	Global	Study-wide	6404	C=0.3848	T=0.6152
1000Genomes_30x	African	Sub	1786	C=0.1943	T=0.8057
1000Genomes_30x	Europe	Sub	1266	C=0.4218	T=0.5782
1000Genomes_30x	South Asian	Sub	1202	C=0.5150	T=0.4850
1000Genomes_30x	East Asian	Sub	1170	C=0.4043	T=0.5957
1000Genomes_30x	American	Sub	980	C=0.501	T=0.499
1000Genomes	Global	Study-wide	5008	C=0.3928	T=0.6072
1000Genomes	African	Sub	1322	C=0.1974	T=0.8026
1000Genomes	East Asian	Sub	1008	C=0.4077	T=0.5923
1000Genomes	Europe	Sub	1006	C=0.4165	T=0.5835
1000Genomes	South Asian	Sub	978	C=0.530	T=0.470
1000Genomes	American	Sub	694	C=0.516	T=0.484
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.3817	T=0.6183
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.3993	T=0.6007
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.3994	T=0.6006
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.3648	G=0.0000, T=0.6352
Korean Genome Project	KOREAN	Study-wide	1832	C=0.3455	T=0.6545
Genome-wide autozygosity in Daghestan	Global	Study-wide	1134	C=0.4718	T=0.5282
Genome-wide autozygosity in Daghestan	Daghestan	Sub	626	C=0.479	T=0.521
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	C=0.444	T=0.556
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	C=0.500	T=0.500
Genome-wide autozygosity in Daghestan	Europe	Sub	108	C=0.528	T=0.472
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	C=0.38	T=0.62
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	C=0.44	T=0.56
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.399	T=0.601
Northern Sweden	ACPOP	Study-wide	600	C=0.338	T=0.662
SGDP_PRJ	Global	Study-wide	396	C=0.293	T=0.707
HapMap	Global	Study-wide	326	C=0.344	T=0.656
HapMap	African	Sub	120	C=0.200	T=0.800
HapMap	American	Sub	120	C=0.408	T=0.592
HapMap	Asian	Sub	86	C=0.45	T=0.55
Qatari	Global	Study-wide	216	C=0.417	T=0.583
A Vietnamese Genetic Variation Database	Global	Study-wide	212	C=0.495	T=0.505
Siberian	Global	Study-wide	46	C=0.30	T=0.70
The Danish reference pan genome	Danish	Study-wide	40	C=0.45	T=0.55

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.21862251C>G
GRCh38.p14 chr 20	NC_000020.11:g.21862251C>T
GRCh37.p13 chr 20	NC_000020.10:g.21842889C>G
GRCh37.p13 chr 20	NC_000020.10:g.21842889C>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=	G	T
GRCh38.p14 chr 20	NC_000020.11:g.21862251=	NC_000020.11:g.21862251C>G	NC_000020.11:g.21862251C>T
GRCh37.p13 chr 20	NC_000020.10:g.21842889=	NC_000020.10:g.21842889C>G	NC_000020.10:g.21842889C>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	SC_SNP	ss8358907	Apr 21, 2003 (114)
2	CSHL-HAPMAP	ss19479394	Feb 27, 2004 (120)
3	SSAHASNP	ss21801960	Apr 05, 2004 (121)
4	PERLEGEN	ss24200121	Sep 20, 2004 (123)
5	CSHL-HAPMAP	ss68415148	Jan 12, 2007 (127)
6	HGSV	ss83554457	Dec 14, 2007 (130)
7	HUMANGENOME_JCVI	ss96190970	Feb 04, 2009 (130)
8	BGI	ss106183022	Feb 04, 2009 (130)
9	1000GENOMES	ss111861000	Jan 25, 2009 (130)
10	1000GENOMES	ss113199899	Jan 25, 2009 (130)
11	ILLUMINA-UK	ss117512599	Feb 14, 2009 (130)
12	ENSEMBL	ss135743328	Dec 01, 2009 (131)
13	GMI	ss156267600	Dec 01, 2009 (131)
14	COMPLETE_GENOMICS	ss167981250	Jul 04, 2010 (132)
15	COMPLETE_GENOMICS	ss169331625	Jul 04, 2010 (132)
16	COMPLETE_GENOMICS	ss171998422	Jul 04, 2010 (132)
17	BUSHMAN	ss203856683	Jul 04, 2010 (132)
18	BCM-HGSC-SUB	ss208608888	Jul 04, 2010 (132)
19	1000GENOMES	ss228303305	Jul 14, 2010 (132)
20	1000GENOMES	ss237797794	Jul 15, 2010 (132)
21	1000GENOMES	ss243976973	Jul 15, 2010 (132)
22	GMI	ss283333211	May 04, 2012 (137)
23	GMI	ss287437526	Apr 25, 2013 (138)
24	PJP	ss292630290	May 09, 2011 (134)
25	TISHKOFF	ss566190157	Apr 25, 2013 (138)
26	SSMP	ss662065350	Apr 25, 2013 (138)
27	EVA-GONL	ss994628959	Aug 21, 2014 (142)
28	JMKIDD_LAB	ss1082140102	Aug 21, 2014 (142)
29	1000GENOMES	ss1364393298	Aug 21, 2014 (142)
30	HAMMER_LAB	ss1397767148	Sep 08, 2015 (146)
31	DDI	ss1429022382	Apr 01, 2015 (144)
32	EVA_GENOME_DK	ss1579473405	Apr 01, 2015 (144)
33	EVA_UK10K_ALSPAC	ss1638591597	Apr 01, 2015 (144)
34	EVA_UK10K_TWINSUK	ss1681585630	Apr 01, 2015 (144)
35	EVA_DECODE	ss1698688051	Apr 01, 2015 (144)
36	HAMMER_LAB	ss1809460354	Sep 08, 2015 (146)
37	WEILL_CORNELL_DGM	ss1938135824	Feb 12, 2016 (147)
38	GENOMED	ss1969113125	Jul 19, 2016 (147)
39	JJLAB	ss2029853136	Sep 14, 2016 (149)
40	USC_VALOUEV	ss2158406014	Dec 20, 2016 (150)
41	HUMAN_LONGEVITY	ss2242013214	Dec 20, 2016 (150)
42	SYSTEMSBIOZJU	ss2629421695	Nov 08, 2017 (151)
43	GRF	ss2704082094	Nov 08, 2017 (151)
44	GNOMAD	ss2966351684	Nov 08, 2017 (151)
45	SWEGEN	ss3017999714	Nov 08, 2017 (151)
46	BIOINF_KMB_FNS_UNIBA	ss3028759654	Nov 08, 2017 (151)
47	CSHL	ss3352459291	Nov 08, 2017 (151)
48	URBANLAB	ss3650990052	Oct 12, 2018 (152)
49	EGCUT_WGS	ss3684725617	Jul 13, 2019 (153)
50	EVA_DECODE	ss3706723044	Jul 13, 2019 (153)
51	ACPOP	ss3743322093	Jul 13, 2019 (153)
52	EVA	ss3758527999	Jul 13, 2019 (153)
53	PACBIO	ss3788621837	Jul 13, 2019 (153)
54	PACBIO	ss3793518832	Jul 13, 2019 (153)
55	PACBIO	ss3798406007	Jul 13, 2019 (153)
56	KHV_HUMAN_GENOMES	ss3821696072	Jul 13, 2019 (153)
57	EVA	ss3835631009	Apr 27, 2020 (154)
58	EVA	ss3841441886	Apr 27, 2020 (154)
59	EVA	ss3846950031	Apr 27, 2020 (154)
60	SGDP_PRJ	ss3888903590	Apr 27, 2020 (154)
61	KRGDB	ss3939109609	Apr 27, 2020 (154)
62	KOGIC	ss3981975759	Apr 27, 2020 (154)
63	TOPMED	ss5085144455	Apr 26, 2021 (155)
64	TOMMO_GENOMICS	ss5229206807	Apr 26, 2021 (155)
65	1000G_HIGH_COVERAGE	ss5308368812	Oct 13, 2022 (156)
66	EVA	ss5436791769	Oct 13, 2022 (156)
67	HUGCELL_USP	ss5500745869	Oct 13, 2022 (156)
68	EVA	ss5512183933	Oct 13, 2022 (156)
69	1000G_HIGH_COVERAGE	ss5614596284	Oct 13, 2022 (156)
70	SANFORD_IMAGENETICS	ss5663028281	Oct 13, 2022 (156)
71	TOMMO_GENOMICS	ss5788297326	Oct 13, 2022 (156)
72	YY_MCH	ss5817889003	Oct 13, 2022 (156)
73	EVA	ss5845559277	Oct 13, 2022 (156)
74	EVA	ss5853105167	Oct 13, 2022 (156)
75	EVA	ss5923007908	Oct 13, 2022 (156)
76	EVA	ss5957942713	Oct 13, 2022 (156)
77	EVA	ss5981081205	Oct 13, 2022 (156)
78	1000Genomes	NC_000020.10 - 21842889	Oct 12, 2018 (152)
79	1000Genomes_30x	NC_000020.11 - 21862251	Oct 13, 2022 (156)
80	The Avon Longitudinal Study of Parents and Children	NC_000020.10 - 21842889	Oct 12, 2018 (152)
81	Genome-wide autozygosity in Daghestan	NC_000020.9 - 21790889	Apr 27, 2020 (154)
82	Genetic variation in the Estonian population	NC_000020.10 - 21842889	Oct 12, 2018 (152)
83	The Danish reference pan genome	NC_000020.10 - 21842889	Apr 27, 2020 (154)
84	gnomAD - Genomes	NC_000020.11 - 21862251	Apr 26, 2021 (155)
85	Genome of the Netherlands Release 5	NC_000020.10 - 21842889	Apr 27, 2020 (154)
86	HapMap	NC_000020.11 - 21862251	Apr 27, 2020 (154)
87	KOREAN population from KRGDB	NC_000020.10 - 21842889	Apr 27, 2020 (154)
88	Korean Genome Project	NC_000020.11 - 21862251	Apr 27, 2020 (154)
89	Northern Sweden	NC_000020.10 - 21842889	Jul 13, 2019 (153)
90	Qatari	NC_000020.10 - 21842889	Apr 27, 2020 (154)
91	SGDP_PRJ	NC_000020.10 - 21842889	Apr 27, 2020 (154)
92	Siberian	NC_000020.10 - 21842889	Apr 27, 2020 (154)
93	8.3KJPN	NC_000020.10 - 21842889	Apr 26, 2021 (155)
94	14KJPN	NC_000020.11 - 21862251	Oct 13, 2022 (156)
95	TopMed	NC_000020.11 - 21862251	Apr 26, 2021 (155)
96	UK 10K study - Twins	NC_000020.10 - 21842889	Oct 12, 2018 (152)
97	A Vietnamese Genetic Variation Database	NC_000020.10 - 21842889	Jul 13, 2019 (153)
98	ALFA	NC_000020.11 - 21862251	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)
rs17751328	Oct 07, 2004 (123)
rs57728563	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
46287003, ss3939109609	NC_000020.10:21842888:C:G	NC_000020.11:21862250:C:G	(self)
281281, ss83554457, ss111861000, ss113199899, ss117512599, ss167981250, ss169331625, ss171998422, ss203856683, ss208608888, ss283333211, ss287437526, ss292630290, ss1397767148, ss1698688051	NC_000020.9:21790888:C:T	NC_000020.11:21862250:C:T	(self)
77844346, 43101127, 30463865, 5638344, 19205387, 46287003, 16606958, 20177746, 40920570, 10922368, 87176114, 43101127, 9517622, ss228303305, ss237797794, ss243976973, ss566190157, ss662065350, ss994628959, ss1082140102, ss1364393298, ss1429022382, ss1579473405, ss1638591597, ss1681585630, ss1809460354, ss1938135824, ss1969113125, ss2029853136, ss2158406014, ss2629421695, ss2704082094, ss2966351684, ss3017999714, ss3352459291, ss3684725617, ss3743322093, ss3758527999, ss3788621837, ss3793518832, ss3798406007, ss3835631009, ss3841441886, ss3888903590, ss3939109609, ss5229206807, ss5436791769, ss5512183933, ss5663028281, ss5845559277, ss5957942713, ss5981081205	NC_000020.10:21842888:C:T	NC_000020.11:21862250:C:T	(self)
102122219, 548829338, 2096975, 38353760, 122134430, 360253400, 10113614291, ss2242013214, ss3028759654, ss3650990052, ss3706723044, ss3821696072, ss3846950031, ss3981975759, ss5085144455, ss5308368812, ss5500745869, ss5614596284, ss5788297326, ss5817889003, ss5853105167, ss5923007908	NC_000020.11:21862250:C:T	NC_000020.11:21862250:C:T	(self)
ss8358907, ss19479394, ss21801960, ss24200121, ss68415148, ss96190970, ss106183022, ss135743328, ss156267600	NT_011387.8:21782888:C:T	NC_000020.11:21862250: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 rs6047676

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

rs6047676