Name: rs6051884
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.

rs6051884

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr20:113290 (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
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.198085 (52431/264690, TOPMED)
A=0.187596 (26251/139934, GnomAD)
A=0.09215 (2604/28258, 14KJPN) (+ 15 more)
A=0.16215 (3063/18890, ALFA)
A=0.09141 (1532/16760, 8.3KJPN)
A=0.2049 (1312/6404, 1000G_30x)
A=0.2009 (1006/5008, 1000G)
A=0.1029 (461/4480, Estonian)
A=0.1546 (596/3854, ALSPAC)
A=0.1526 (566/3708, TWINSUK)
A=0.1095 (320/2922, KOREAN)
A=0.0955 (175/1832, Korea1K)
A=0.157 (157/998, GoNL)
A=0.098 (59/600, NorthernSweden)
A=0.181 (39/216, Qatari)
G=0.393 (59/150, SGDP_PRJ)
A=0.05 (2/40, GENOME_DK)
G=0.42 (5/12, 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	18890	G=0.83785	A=0.16215
European	Sub	14286	G=0.86231	A=0.13769
African	Sub	2946	G=0.7251	A=0.2749
African Others	Sub	114	G=0.658	A=0.342
African American	Sub	2832	G=0.7278	A=0.2722
Asian	Sub	112	G=0.884	A=0.116
East Asian	Sub	86	G=0.88	A=0.12
Other Asian	Sub	26	G=0.88	A=0.12
Latin American 1	Sub	146	G=0.719	A=0.281
Latin American 2	Sub	610	G=0.848	A=0.152
South Asian	Sub	98	G=0.84	A=0.16
Other	Sub	692	G=0.822	A=0.178

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
TopMed	Global	Study-wide	264690	G=0.801915	A=0.198085
gnomAD - Genomes	Global	Study-wide	139934	G=0.812404	A=0.187596
gnomAD - Genomes	European	Sub	75836	G=0.86069	A=0.13931
gnomAD - Genomes	African	Sub	41884	G=0.71865	A=0.28135
gnomAD - Genomes	American	Sub	13616	G=0.81573	A=0.18427
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	G=0.8054	A=0.1946
gnomAD - Genomes	East Asian	Sub	3128	G=0.8974	A=0.1026
gnomAD - Genomes	Other	Sub	2146	G=0.8020	A=0.1980
14KJPN	JAPANESE	Study-wide	28258	G=0.90785	A=0.09215
Allele Frequency Aggregator	Total	Global	18890	G=0.83785	A=0.16215
Allele Frequency Aggregator	European	Sub	14286	G=0.86231	A=0.13769
Allele Frequency Aggregator	African	Sub	2946	G=0.7251	A=0.2749
Allele Frequency Aggregator	Other	Sub	692	G=0.822	A=0.178
Allele Frequency Aggregator	Latin American 2	Sub	610	G=0.848	A=0.152
Allele Frequency Aggregator	Latin American 1	Sub	146	G=0.719	A=0.281
Allele Frequency Aggregator	Asian	Sub	112	G=0.884	A=0.116
Allele Frequency Aggregator	South Asian	Sub	98	G=0.84	A=0.16
8.3KJPN	JAPANESE	Study-wide	16760	G=0.90859	A=0.09141
1000Genomes_30x	Global	Study-wide	6404	G=0.7951	A=0.2049
1000Genomes_30x	African	Sub	1786	G=0.6915	A=0.3085
1000Genomes_30x	Europe	Sub	1266	G=0.8397	A=0.1603
1000Genomes_30x	South Asian	Sub	1202	G=0.8062	A=0.1938
1000Genomes_30x	East Asian	Sub	1170	G=0.8897	A=0.1103
1000Genomes_30x	American	Sub	980	G=0.800	A=0.200
1000Genomes	Global	Study-wide	5008	G=0.7991	A=0.2009
1000Genomes	African	Sub	1322	G=0.6899	A=0.3101
1000Genomes	East Asian	Sub	1008	G=0.8899	A=0.1101
1000Genomes	Europe	Sub	1006	G=0.8439	A=0.1561
1000Genomes	South Asian	Sub	978	G=0.810	A=0.190
1000Genomes	American	Sub	694	G=0.795	A=0.205
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.8971	A=0.1029
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.8454	A=0.1546
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.8474	A=0.1526
KOREAN population from KRGDB	KOREAN	Study-wide	2922	G=0.8905	A=0.1095
Korean Genome Project	KOREAN	Study-wide	1832	G=0.9045	A=0.0955
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.843	A=0.157
Northern Sweden	ACPOP	Study-wide	600	G=0.902	A=0.098
Qatari	Global	Study-wide	216	G=0.819	A=0.181
SGDP_PRJ	Global	Study-wide	150	G=0.393	A=0.607
The Danish reference pan genome	Danish	Study-wide	40	G=0.95	A=0.05
Siberian	Global	Study-wide	12	G=0.42	A=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 20	NC_000020.11:g.113290G>A
GRCh37.p13 chr 20	NC_000020.10:g.93931G>A

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
GRCh38.p14 chr 20	NC_000020.11:g.113290=	NC_000020.11:g.113290G>A
GRCh37.p13 chr 20	NC_000020.10:g.93931=	NC_000020.10:g.93931G>A

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#.

65 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss8364417	Apr 21, 2003 (114)
2	SC_SNP	ss11110524	Jul 11, 2003 (126)
3	CSHL-HAPMAP	ss17700220	Feb 27, 2004 (126)
4	SSAHASNP	ss21772046	Apr 05, 2004 (126)
5	ABI	ss41415252	Mar 11, 2006 (126)
6	HGSV	ss78107031	Dec 06, 2007 (129)
7	BCMHGSC_JDW	ss91611659	Mar 24, 2008 (129)
8	IGMI-SNU	ss115457070	Feb 02, 2009 (130)
9	ILLUMINA-UK	ss117452098	Dec 01, 2009 (131)
10	ENSEMBL	ss138196776	Dec 01, 2009 (131)
11	GMI	ss156059215	Dec 01, 2009 (131)
12	ENSEMBL	ss161324575	Dec 01, 2009 (131)
13	COMPLETE_GENOMICS	ss167637630	Jul 04, 2010 (132)
14	COMPLETE_GENOMICS	ss171804957	Jul 04, 2010 (132)
15	BUSHMAN	ss203804045	Jul 04, 2010 (132)
16	GMI	ss283268993	May 04, 2012 (137)
17	PJP	ss292559601	May 09, 2011 (134)
18	1000GENOMES	ss340567660	May 09, 2011 (134)
19	TISHKOFF	ss566082556	Apr 25, 2013 (138)
20	SSMP	ss661953480	Apr 25, 2013 (138)
21	EVA-GONL	ss994456916	Aug 21, 2014 (142)
22	JMKIDD_LAB	ss1082009648	Aug 21, 2014 (142)
23	1000GENOMES	ss1363766536	Aug 21, 2014 (142)
24	DDI	ss1428970691	Apr 01, 2015 (144)
25	EVA_GENOME_DK	ss1579402642	Apr 01, 2015 (144)
26	EVA_UK10K_ALSPAC	ss1638249506	Apr 01, 2015 (144)
27	EVA_UK10K_TWINSUK	ss1681243539	Apr 01, 2015 (144)
28	EVA_DECODE	ss1698510480	Apr 01, 2015 (144)
29	HAMMER_LAB	ss1809383672	Sep 08, 2015 (146)
30	WEILL_CORNELL_DGM	ss1937965488	Feb 12, 2016 (147)
31	GENOMED	ss1969071155	Jul 19, 2016 (147)
32	JJLAB	ss2029757341	Sep 14, 2016 (149)
33	USC_VALOUEV	ss2158311912	Dec 20, 2016 (150)
34	HUMAN_LONGEVITY	ss2240714682	Dec 20, 2016 (150)
35	SYSTEMSBIOZJU	ss2629376478	Nov 08, 2017 (151)
36	GRF	ss2703983199	Nov 08, 2017 (151)
37	GNOMAD	ss2964604306	Nov 08, 2017 (151)
38	SWEGEN	ss3017744100	Nov 08, 2017 (151)
39	BIOINF_KMB_FNS_UNIBA	ss3028710436	Nov 08, 2017 (151)
40	CSHL	ss3352380246	Nov 08, 2017 (151)
41	EGCUT_WGS	ss3684456756	Jul 13, 2019 (153)
42	EVA_DECODE	ss3706405525	Jul 13, 2019 (153)
43	ACPOP	ss3743179040	Jul 13, 2019 (153)
44	EVA	ss3758326276	Jul 13, 2019 (153)
45	KHV_HUMAN_GENOMES	ss3821499186	Jul 13, 2019 (153)
46	EVA	ss3835545012	Apr 27, 2020 (154)
47	EVA	ss3841395574	Apr 27, 2020 (154)
48	EVA	ss3846902837	Apr 27, 2020 (154)
49	SGDP_PRJ	ss3888570613	Apr 27, 2020 (154)
50	KRGDB	ss3938747430	Apr 27, 2020 (154)
51	KOGIC	ss3981678975	Apr 27, 2020 (154)
52	TOPMED	ss5079740698	Apr 27, 2021 (155)
53	TOMMO_GENOMICS	ss5228506362	Apr 27, 2021 (155)
54	1000G_HIGH_COVERAGE	ss5307820941	Oct 13, 2022 (156)
55	EVA	ss5435784027	Oct 13, 2022 (156)
56	HUGCELL_USP	ss5500246287	Oct 13, 2022 (156)
57	EVA	ss5512135292	Oct 13, 2022 (156)
58	1000G_HIGH_COVERAGE	ss5613777549	Oct 13, 2022 (156)
59	SANFORD_IMAGENETICS	ss5662711641	Oct 13, 2022 (156)
60	TOMMO_GENOMICS	ss5787398315	Oct 13, 2022 (156)
61	YY_MCH	ss5817748774	Oct 13, 2022 (156)
62	EVA	ss5845337435	Oct 13, 2022 (156)
63	EVA	ss5853034248	Oct 13, 2022 (156)
64	EVA	ss5922372151	Oct 13, 2022 (156)
65	EVA	ss5957607285	Oct 13, 2022 (156)
66	1000Genomes	NC_000020.10 - 93931	Oct 12, 2018 (152)
67	1000Genomes_30x	NC_000020.11 - 113290	Oct 13, 2022 (156)
68	The Avon Longitudinal Study of Parents and Children	NC_000020.10 - 93931	Oct 12, 2018 (152)
69	Genetic variation in the Estonian population	NC_000020.10 - 93931	Oct 12, 2018 (152)
70	The Danish reference pan genome	NC_000020.10 - 93931	Apr 27, 2020 (154)
71	gnomAD - Genomes	NC_000020.11 - 113290	Apr 27, 2021 (155)
72	Genome of the Netherlands Release 5	NC_000020.10 - 93931	Apr 27, 2020 (154)
73	KOREAN population from KRGDB	NC_000020.10 - 93931	Apr 27, 2020 (154)
74	Korean Genome Project	NC_000020.11 - 113290	Apr 27, 2020 (154)
75	Northern Sweden	NC_000020.10 - 93931	Jul 13, 2019 (153)
76	Qatari	NC_000020.10 - 93931	Apr 27, 2020 (154)
77	SGDP_PRJ	NC_000020.10 - 93931	Apr 27, 2020 (154)
78	Siberian	NC_000020.10 - 93931	Apr 27, 2020 (154)
79	8.3KJPN	NC_000020.10 - 93931	Apr 27, 2021 (155)
80	14KJPN	NC_000020.11 - 113290	Oct 13, 2022 (156)
81	TopMed	NC_000020.11 - 113290	Apr 27, 2021 (155)
82	UK 10K study - Twins	NC_000020.10 - 93931	Oct 12, 2018 (152)
83	ALFA	NC_000020.11 - 113290	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).

Associated ID	History Updated (Build)
rs7348029	Mar 11, 2006 (126)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss78107031, ss91611659, ss117452098, ss167637630, ss171804957, ss203804045, ss283268993, ss292559601, ss1698510480	NC_000020.9:41930:G:A	NC_000020.11:113289:G:A	(self)
77195909, 42725837, 30195004, 5567581, 19037742, 45924824, 16463905, 20007410, 40587593, 10828266, 86475669, 42725837, ss340567660, ss566082556, ss661953480, ss994456916, ss1082009648, ss1363766536, ss1428970691, ss1579402642, ss1638249506, ss1681243539, ss1809383672, ss1937965488, ss1969071155, ss2029757341, ss2158311912, ss2629376478, ss2703983199, ss2964604306, ss3017744100, ss3352380246, ss3684456756, ss3743179040, ss3758326276, ss3835545012, ss3841395574, ss3888570613, ss3938747430, ss5228506362, ss5435784027, ss5512135292, ss5662711641, ss5845337435, ss5957607285	NC_000020.10:93930:G:A	NC_000020.11:113289:G:A	(self)
101303484, 544385233, 38056976, 121235419, 354849643, 2550627856, ss2240714682, ss3028710436, ss3706405525, ss3821499186, ss3846902837, ss3981678975, ss5079740698, ss5307820941, ss5500246287, ss5613777549, ss5787398315, ss5817748774, ss5853034248, ss5922372151	NC_000020.11:113289:G:A	NC_000020.11:113289:G:A	(self)
ss8364417, ss11110524, ss17700220, ss21772046, ss41415252, ss115457070, ss138196776, ss156059215, ss161324575	NT_011387.8:33930:G:A	NC_000020.11:113289:G:A	(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 rs6051884

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

rs6051884