Name: rs926614
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.

rs926614

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr20:285600 (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: T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.403007 (106672/264690, TOPMED)
G=0.413148 (57825/139962, GnomAD)
T=0.46628 (13176/28258, 14KJPN) (+ 17 more)
G=0.42138 (11770/27932, ALFA)
T=0.46838 (7850/16760, 8.3KJPN)
G=0.3912 (2505/6404, 1000G_30x)
G=0.3930 (1968/5008, 1000G)
G=0.4701 (2106/4480, Estonian)
G=0.4139 (1595/3854, ALSPAC)
G=0.4142 (1536/3708, TWINSUK)
T=0.4140 (1213/2930, KOREAN)
T=0.4099 (751/1832, Korea1K)
G=0.418 (417/998, GoNL)
G=0.463 (278/600, NorthernSweden)
T=0.344 (128/372, SGDP_PRJ)
G=0.264 (57/216, Qatari)
G=0.449 (97/216, Vietnamese)
T=0.36 (16/44, Siberian)
T=0.50 (20/40, GENOME_DK)
G=0.50 (20/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: C20orf96 : Intron Variant
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	28024	T=0.57904	G=0.42096
European	Sub	20470	T=0.57626	G=0.42374
African	Sub	5576	T=0.5687	G=0.4313
African Others	Sub	198	T=0.540	G=0.460
African American	Sub	5378	T=0.5697	G=0.4303
Asian	Sub	112	T=0.491	G=0.509
East Asian	Sub	86	T=0.49	G=0.51
Other Asian	Sub	26	T=0.50	G=0.50
Latin American 1	Sub	146	T=0.767	G=0.233
Latin American 2	Sub	610	T=0.675	G=0.325
South Asian	Sub	98	T=0.69	G=0.31
Other	Sub	1012	T=0.6057	G=0.3943

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	T=0.596993	G=0.403007
gnomAD - Genomes	Global	Study-wide	139962	T=0.586852	G=0.413148
gnomAD - Genomes	European	Sub	75838	T=0.58194	G=0.41806
gnomAD - Genomes	African	Sub	41902	T=0.56069	G=0.43931
gnomAD - Genomes	American	Sub	13640	T=0.68600	G=0.31400
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	T=0.6798	G=0.3202
gnomAD - Genomes	East Asian	Sub	3114	T=0.4907	G=0.5093
gnomAD - Genomes	Other	Sub	2148	T=0.6369	G=0.3631
14KJPN	JAPANESE	Study-wide	28258	T=0.46628	G=0.53372
Allele Frequency Aggregator	Total	Global	27932	T=0.57862	G=0.42138
Allele Frequency Aggregator	European	Sub	20396	T=0.57590	G=0.42410
Allele Frequency Aggregator	African	Sub	5576	T=0.5687	G=0.4313
Allele Frequency Aggregator	Other	Sub	994	T=0.602	G=0.398
Allele Frequency Aggregator	Latin American 2	Sub	610	T=0.675	G=0.325
Allele Frequency Aggregator	Latin American 1	Sub	146	T=0.767	G=0.233
Allele Frequency Aggregator	Asian	Sub	112	T=0.491	G=0.509
Allele Frequency Aggregator	South Asian	Sub	98	T=0.69	G=0.31
8.3KJPN	JAPANESE	Study-wide	16760	T=0.46838	G=0.53162
1000Genomes_30x	Global	Study-wide	6404	T=0.6088	G=0.3912
1000Genomes_30x	African	Sub	1786	T=0.5633	G=0.4367
1000Genomes_30x	Europe	Sub	1266	T=0.6256	G=0.3744
1000Genomes_30x	South Asian	Sub	1202	T=0.6880	G=0.3120
1000Genomes_30x	East Asian	Sub	1170	T=0.5205	G=0.4795
1000Genomes_30x	American	Sub	980	T=0.679	G=0.321
1000Genomes	Global	Study-wide	5008	T=0.6070	G=0.3930
1000Genomes	African	Sub	1322	T=0.5605	G=0.4395
1000Genomes	East Asian	Sub	1008	T=0.5129	G=0.4871
1000Genomes	Europe	Sub	1006	T=0.6262	G=0.3738
1000Genomes	South Asian	Sub	978	T=0.692	G=0.308
1000Genomes	American	Sub	694	T=0.684	G=0.316
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.5299	G=0.4701
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.5861	G=0.4139
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.5858	G=0.4142
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.4140	G=0.5860
Korean Genome Project	KOREAN	Study-wide	1832	T=0.4099	G=0.5901
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.582	G=0.418
Northern Sweden	ACPOP	Study-wide	600	T=0.537	G=0.463
SGDP_PRJ	Global	Study-wide	372	T=0.344	G=0.656
Qatari	Global	Study-wide	216	T=0.736	G=0.264
A Vietnamese Genetic Variation Database	Global	Study-wide	216	T=0.551	G=0.449
Siberian	Global	Study-wide	44	T=0.36	G=0.64
The Danish reference pan genome	Danish	Study-wide	40	T=0.50	G=0.50

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.285600T>G
GRCh37.p13 chr 20	NC_000020.10:g.266241T>G

Gene: C20orf96, chromosome 20 open reading frame 96 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
C20orf96 transcript variant 2	NM_080571.2:c.185-1519A>C	N/A	Intron Variant
C20orf96 transcript variant 1	NM_153269.3:c.188-1519A>C	N/A	Intron Variant
C20orf96 transcript variant X1	XM_047439896.1:c.-92-1519… XM_047439896.1:c.-92-1519A>C	N/A	Intron Variant
C20orf96 transcript variant X2	XM_047439897.1:c.29-1519A… XM_047439897.1:c.29-1519A>C	N/A	Intron Variant
C20orf96 transcript variant X3	XM_047439898.1:c.14-1519A… XM_047439898.1:c.14-1519A>C	N/A	Intron Variant
C20orf96 transcript variant X4	XM_047439899.1:c.-92-1519… XM_047439899.1:c.-92-1519A>C	N/A	Intron Variant
C20orf96 transcript variant X5	XM_047439900.1:c.14-1519A… XM_047439900.1:c.14-1519A>C	N/A	Intron Variant

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	T=	G
GRCh38.p14 chr 20	NC_000020.11:g.285600=	NC_000020.11:g.285600T>G
GRCh37.p13 chr 20	NC_000020.10:g.266241=	NC_000020.10:g.266241T>G
C20orf96 transcript variant 2	NM_080571.1:c.185-1519=	NM_080571.1:c.185-1519A>C
C20orf96 transcript variant 2	NM_080571.2:c.185-1519=	NM_080571.2:c.185-1519A>C
C20orf96 transcript variant 1	NM_153269.2:c.188-1519=	NM_153269.2:c.188-1519A>C
C20orf96 transcript variant 1	NM_153269.3:c.188-1519=	NM_153269.3:c.188-1519A>C
C20orf96 transcript variant X1	XM_005260666.1:c.83-1519=	XM_005260666.1:c.83-1519A>C
C20orf96 transcript variant X1	XM_047439896.1:c.-92-1519=	XM_047439896.1:c.-92-1519A>C
C20orf96 transcript variant X2	XM_047439897.1:c.29-1519=	XM_047439897.1:c.29-1519A>C
C20orf96 transcript variant X3	XM_047439898.1:c.14-1519=	XM_047439898.1:c.14-1519A>C
C20orf96 transcript variant X4	XM_047439899.1:c.-92-1519=	XM_047439899.1:c.-92-1519A>C
C20orf96 transcript variant X5	XM_047439900.1:c.14-1519=	XM_047439900.1:c.14-1519A>C

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#.

75 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss1364320	Oct 05, 2000 (86)
2	SC_SNP	ss8342937	Apr 21, 2003 (114)
3	ABI	ss41384059	Mar 13, 2006 (126)
4	PERLEGEN	ss46555629	Mar 13, 2006 (126)
5	HGSV	ss82255562	Dec 16, 2007 (130)
6	HUMANGENOME_JCVI	ss96207598	Feb 06, 2009 (130)
7	1000GENOMES	ss111583945	Jan 25, 2009 (130)
8	1000GENOMES	ss115348258	Jan 25, 2009 (130)
9	ILLUMINA-UK	ss117452751	Dec 01, 2009 (131)
10	GMI	ss156062218	Dec 01, 2009 (131)
11	COMPLETE_GENOMICS	ss167640950	Jul 04, 2010 (132)
12	COMPLETE_GENOMICS	ss168833438	Jul 04, 2010 (132)
13	COMPLETE_GENOMICS	ss171806240	Jul 04, 2010 (132)
14	BUSHMAN	ss203804637	Jul 04, 2010 (132)
15	BCM-HGSC-SUB	ss208716209	Jul 04, 2010 (132)
16	1000GENOMES	ss228211570	Jul 14, 2010 (132)
17	1000GENOMES	ss237730619	Jul 15, 2010 (132)
18	1000GENOMES	ss243924074	Jul 15, 2010 (132)
19	GMI	ss283269684	May 04, 2012 (137)
20	GMI	ss287408763	Apr 25, 2013 (138)
21	PJP	ss292560018	May 09, 2011 (134)
22	TISHKOFF	ss566083672	Apr 25, 2013 (138)
23	SSMP	ss661954610	Apr 25, 2013 (138)
24	EVA-GONL	ss994458646	Aug 21, 2014 (142)
25	JMKIDD_LAB	ss1082010879	Aug 21, 2014 (142)
26	1000GENOMES	ss1363771816	Aug 21, 2014 (142)
27	DDI	ss1428971190	Apr 01, 2015 (144)
28	EVA_GENOME_DK	ss1579403364	Apr 01, 2015 (144)
29	EVA_UK10K_ALSPAC	ss1638252400	Apr 01, 2015 (144)
30	EVA_UK10K_TWINSUK	ss1681246433	Apr 01, 2015 (144)
31	EVA_DECODE	ss1698512132	Apr 01, 2015 (144)
32	HAMMER_LAB	ss1809384617	Sep 08, 2015 (146)
33	WEILL_CORNELL_DGM	ss1937967174	Feb 12, 2016 (147)
34	GENOMED	ss1969071523	Jul 19, 2016 (147)
35	JJLAB	ss2029758405	Sep 14, 2016 (149)
36	USC_VALOUEV	ss2158312857	Dec 20, 2016 (150)
37	HUMAN_LONGEVITY	ss2240724904	Dec 20, 2016 (150)
38	SYSTEMSBIOZJU	ss2629376999	Nov 08, 2017 (151)
39	GRF	ss2703984292	Nov 08, 2017 (151)
40	GNOMAD	ss2964618900	Nov 08, 2017 (151)
41	AFFY	ss2985206706	Nov 08, 2017 (151)
42	AFFY	ss2985827269	Nov 08, 2017 (151)
43	SWEGEN	ss3017746614	Nov 08, 2017 (151)
44	BIOINF_KMB_FNS_UNIBA	ss3028710931	Nov 08, 2017 (151)
45	CSHL	ss3352381106	Nov 08, 2017 (151)
46	URBANLAB	ss3650953507	Oct 12, 2018 (152)
47	ILLUMINA	ss3653974899	Oct 12, 2018 (152)
48	EGCUT_WGS	ss3684459088	Jul 13, 2019 (153)
49	EVA_DECODE	ss3706408604	Jul 13, 2019 (153)
50	ACPOP	ss3743180664	Jul 13, 2019 (153)
51	EVA	ss3758328161	Jul 13, 2019 (153)
52	PACBIO	ss3788577301	Jul 13, 2019 (153)
53	PACBIO	ss3793480785	Jul 13, 2019 (153)
54	PACBIO	ss3798367932	Jul 13, 2019 (153)
55	KHV_HUMAN_GENOMES	ss3821501156	Jul 13, 2019 (153)
56	EVA	ss3835545906	Apr 27, 2020 (154)
57	EVA	ss3841396114	Apr 27, 2020 (154)
58	EVA	ss3846903395	Apr 27, 2020 (154)
59	SGDP_PRJ	ss3888573918	Apr 27, 2020 (154)
60	KRGDB	ss3938750920	Apr 27, 2020 (154)
61	KOGIC	ss3981681593	Apr 27, 2020 (154)
62	TOPMED	ss5079782388	Apr 26, 2021 (155)
63	TOMMO_GENOMICS	ss5228512678	Apr 26, 2021 (155)
64	1000G_HIGH_COVERAGE	ss5307825958	Oct 13, 2022 (156)
65	EVA	ss5435791949	Oct 13, 2022 (156)
66	HUGCELL_USP	ss5500250686	Oct 13, 2022 (156)
67	1000G_HIGH_COVERAGE	ss5613784593	Oct 13, 2022 (156)
68	SANFORD_IMAGENETICS	ss5662714618	Oct 13, 2022 (156)
69	TOMMO_GENOMICS	ss5787406387	Oct 13, 2022 (156)
70	YY_MCH	ss5817750257	Oct 13, 2022 (156)
71	EVA	ss5845339511	Oct 13, 2022 (156)
72	EVA	ss5853034954	Oct 13, 2022 (156)
73	EVA	ss5922377514	Oct 13, 2022 (156)
74	EVA	ss5957610340	Oct 13, 2022 (156)
75	EVA	ss5981071196	Oct 13, 2022 (156)
76	1000Genomes	NC_000020.10 - 266241	Oct 12, 2018 (152)
77	1000Genomes_30x	NC_000020.11 - 285600	Oct 13, 2022 (156)
78	The Avon Longitudinal Study of Parents and Children	NC_000020.10 - 266241	Oct 12, 2018 (152)
79	Genetic variation in the Estonian population	NC_000020.10 - 266241	Oct 12, 2018 (152)
80	The Danish reference pan genome	NC_000020.10 - 266241	Apr 27, 2020 (154)
81	gnomAD - Genomes	NC_000020.11 - 285600	Apr 26, 2021 (155)
82	Genome of the Netherlands Release 5	NC_000020.10 - 266241	Apr 27, 2020 (154)
83	KOREAN population from KRGDB	NC_000020.10 - 266241	Apr 27, 2020 (154)
84	Korean Genome Project	NC_000020.11 - 285600	Apr 27, 2020 (154)
85	Northern Sweden	NC_000020.10 - 266241	Jul 13, 2019 (153)
86	Qatari	NC_000020.10 - 266241	Apr 27, 2020 (154)
87	SGDP_PRJ	NC_000020.10 - 266241	Apr 27, 2020 (154)
88	Siberian	NC_000020.10 - 266241	Apr 27, 2020 (154)
89	8.3KJPN	NC_000020.10 - 266241	Apr 26, 2021 (155)
90	14KJPN	NC_000020.11 - 285600	Oct 13, 2022 (156)
91	TopMed	NC_000020.11 - 285600	Apr 26, 2021 (155)
92	UK 10K study - Twins	NC_000020.10 - 266241	Oct 12, 2018 (152)
93	A Vietnamese Genetic Variation Database	NC_000020.10 - 266241	Jul 13, 2019 (153)
94	ALFA	NC_000020.11 - 285600	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)
rs61357828	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss82255562, ss111583945, ss115348258, ss117452751, ss167640950, ss168833438, ss171806240, ss203804637, ss208716209, ss283269684, ss287408763, ss292560018, ss1698512132	NC_000020.9:214240:T:G	NC_000020.11:285599:T:G	(self)
77201357, 42729087, 30197336, 5568303, 19039396, 45928314, 16465529, 20009096, 40590898, 10829211, 86481985, 42729087, 9433193, ss228211570, ss237730619, ss243924074, ss566083672, ss661954610, ss994458646, ss1082010879, ss1363771816, ss1428971190, ss1579403364, ss1638252400, ss1681246433, ss1809384617, ss1937967174, ss1969071523, ss2029758405, ss2158312857, ss2629376999, ss2703984292, ss2964618900, ss2985206706, ss2985827269, ss3017746614, ss3352381106, ss3653974899, ss3684459088, ss3743180664, ss3758328161, ss3788577301, ss3793480785, ss3798367932, ss3835545906, ss3841396114, ss3888573918, ss3938750920, ss5228512678, ss5435791949, ss5662714618, ss5845339511, ss5957610340, ss5981071196	NC_000020.10:266240:T:G	NC_000020.11:285599:T:G	(self)
101310528, 544420466, 38059594, 121243491, 354891333, 13169104634, ss2240724904, ss3028710931, ss3650953507, ss3706408604, ss3821501156, ss3846903395, ss3981681593, ss5079782388, ss5307825958, ss5500250686, ss5613784593, ss5787406387, ss5817750257, ss5853034954, ss5922377514	NC_000020.11:285599:T:G	NC_000020.11:285599:T:G	(self)
ss1364320, ss8342937, ss41384059, ss46555629, ss96207598, ss156062218	NT_011387.8:206240:T:G	NC_000020.11:285599:T:G	(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 rs926614

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

rs926614