Name: rs911055
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.

rs911055

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr20:63233638 (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>A / T>C
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.372243 (98529/264690, TOPMED)
T=0.383643 (53773/140164, GnomAD)
T=0.10606 (2997/28258, 14KJPN) (+ 16 more)
T=0.37401 (7065/18890, ALFA)
T=0.10626 (1781/16760, 8.3KJPN)
T=0.3378 (2163/6404, 1000G_30x)
T=0.3325 (1665/5008, 1000G)
T=0.3967 (1777/4480, Estonian)
T=0.3607 (1390/3854, ALSPAC)
T=0.3538 (1312/3708, TWINSUK)
T=0.1379 (404/2930, KOREAN)
T=0.1474 (270/1832, Korea1K)
T=0.367 (366/998, GoNL)
T=0.337 (202/600, NorthernSweden)
T=0.196 (101/516, SGDP_PRJ)
T=0.319 (69/216, Qatari)
T=0.132 (28/212, Vietnamese)
T=0.07 (3/44, Siberian)
T=0.30 (12/40, 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	18890	T=0.37401	C=0.62599
European	Sub	14286	T=0.37078	C=0.62922
African	Sub	2946	T=0.4270	C=0.5730
African Others	Sub	114	T=0.456	C=0.544
African American	Sub	2832	T=0.4258	C=0.5742
Asian	Sub	112	T=0.089	C=0.911
East Asian	Sub	86	T=0.09	C=0.91
Other Asian	Sub	26	T=0.08	C=0.92
Latin American 1	Sub	146	T=0.336	C=0.664
Latin American 2	Sub	610	T=0.289	C=0.711
South Asian	Sub	98	T=0.38	C=0.62
Other	Sub	692	T=0.344	C=0.656

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=0.372243	C=0.627757
gnomAD - Genomes	Global	Study-wide	140164	T=0.383643	C=0.616357
gnomAD - Genomes	European	Sub	75896	T=0.37732	C=0.62268
gnomAD - Genomes	African	Sub	42010	T=0.42885	C=0.57115
gnomAD - Genomes	American	Sub	13652	T=0.35731	C=0.64269
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	T=0.3075	C=0.6925
gnomAD - Genomes	East Asian	Sub	3132	T=0.1370	C=0.8630
gnomAD - Genomes	Other	Sub	2150	T=0.3679	C=0.6321
14KJPN	JAPANESE	Study-wide	28258	T=0.10606	C=0.89394
Allele Frequency Aggregator	Total	Global	18890	T=0.37401	C=0.62599
Allele Frequency Aggregator	European	Sub	14286	T=0.37078	C=0.62922
Allele Frequency Aggregator	African	Sub	2946	T=0.4270	C=0.5730
Allele Frequency Aggregator	Other	Sub	692	T=0.344	C=0.656
Allele Frequency Aggregator	Latin American 2	Sub	610	T=0.289	C=0.711
Allele Frequency Aggregator	Latin American 1	Sub	146	T=0.336	C=0.664
Allele Frequency Aggregator	Asian	Sub	112	T=0.089	C=0.911
Allele Frequency Aggregator	South Asian	Sub	98	T=0.38	C=0.62
8.3KJPN	JAPANESE	Study-wide	16760	T=0.10626	C=0.89374
1000Genomes_30x	Global	Study-wide	6404	T=0.3378	C=0.6622
1000Genomes_30x	African	Sub	1786	T=0.4412	C=0.5588
1000Genomes_30x	Europe	Sub	1266	T=0.3791	C=0.6209
1000Genomes_30x	South Asian	Sub	1202	T=0.3178	C=0.6822
1000Genomes_30x	East Asian	Sub	1170	T=0.1419	C=0.8581
1000Genomes_30x	American	Sub	980	T=0.354	C=0.646
1000Genomes	Global	Study-wide	5008	T=0.3325	C=0.6675
1000Genomes	African	Sub	1322	T=0.4440	C=0.5560
1000Genomes	East Asian	Sub	1008	T=0.1419	C=0.8581
1000Genomes	Europe	Sub	1006	T=0.3817	C=0.6183
1000Genomes	South Asian	Sub	978	T=0.319	C=0.681
1000Genomes	American	Sub	694	T=0.344	C=0.656
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.3967	C=0.6033
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.3607	C=0.6393
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.3538	C=0.6462
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.1379	A=0.0000, C=0.8621
Korean Genome Project	KOREAN	Study-wide	1832	T=0.1474	C=0.8526
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.367	C=0.633
Northern Sweden	ACPOP	Study-wide	600	T=0.337	C=0.663
SGDP_PRJ	Global	Study-wide	516	T=0.196	C=0.804
Qatari	Global	Study-wide	216	T=0.319	C=0.681
A Vietnamese Genetic Variation Database	Global	Study-wide	212	T=0.132	C=0.868
Siberian	Global	Study-wide	44	T=0.07	C=0.93
The Danish reference pan genome	Danish	Study-wide	40	T=0.30	C=0.70

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.63233638T>A
GRCh38.p14 chr 20	NC_000020.11:g.63233638T>C
GRCh37.p13 chr 20	NC_000020.10:g.61864990T>A
GRCh37.p13 chr 20	NC_000020.10:g.61864990T>C
BIRC7 RefSeqGene	NG_029552.1:g.2715T>A
BIRC7 RefSeqGene	NG_029552.1:g.2715T>C

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=	A	C
GRCh38.p14 chr 20	NC_000020.11:g.63233638=	NC_000020.11:g.63233638T>A	NC_000020.11:g.63233638T>C
GRCh37.p13 chr 20	NC_000020.10:g.61864990=	NC_000020.10:g.61864990T>A	NC_000020.10:g.61864990T>C
BIRC7 RefSeqGene	NG_029552.1:g.2715=	NG_029552.1:g.2715T>A	NG_029552.1:g.2715T>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#.

79 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss1345261	Oct 05, 2000 (86)
2	WI_SSAHASNP	ss6638406	Feb 20, 2003 (111)
3	SC_SNP	ss8310858	Apr 21, 2003 (114)
4	CSHL-HAPMAP	ss19474241	Feb 27, 2004 (120)
5	CSHL-HAPMAP	ss20123525	Feb 27, 2004 (120)
6	SSAHASNP	ss21783695	Apr 05, 2004 (121)
7	PERLEGEN	ss23789001	Sep 20, 2004 (123)
8	ABI	ss41402002	Mar 15, 2006 (126)
9	HGSV	ss78595752	Dec 07, 2007 (129)
10	HGSV	ss84696605	Dec 16, 2007 (130)
11	HGSV	ss85931326	Dec 16, 2007 (130)
12	BCMHGSC_JDW	ss91755444	Mar 24, 2008 (129)
13	HUMANGENOME_JCVI	ss96241157	Feb 06, 2009 (130)
14	BGI	ss103785153	Dec 01, 2009 (131)
15	1000GENOMES	ss112243391	Jan 25, 2009 (130)
16	1000GENOMES	ss113570034	Jan 25, 2009 (130)
17	ILLUMINA-UK	ss117609931	Feb 14, 2009 (130)
18	ENSEMBL	ss133067157	Dec 01, 2009 (131)
19	ENSEMBL	ss138271954	Dec 01, 2009 (131)
20	COMPLETE_GENOMICS	ss168426271	Jul 04, 2010 (132)
21	BUSHMAN	ss203945441	Jul 04, 2010 (132)
22	1000GENOMES	ss228450584	Jul 14, 2010 (132)
23	1000GENOMES	ss237900697	Jul 15, 2010 (132)
24	1000GENOMES	ss244056596	Jul 15, 2010 (132)
25	BL	ss255771135	May 09, 2011 (134)
26	GMI	ss283445139	May 04, 2012 (137)
27	GMI	ss287485841	Apr 25, 2013 (138)
28	PJP	ss292598850	May 09, 2011 (134)
29	SSMP	ss662246839	Apr 25, 2013 (138)
30	EVA-GONL	ss994906025	Aug 21, 2014 (142)
31	JMKIDD_LAB	ss1082337655	Aug 21, 2014 (142)
32	1000GENOMES	ss1365480034	Aug 21, 2014 (142)
33	DDI	ss1429105642	Apr 01, 2015 (144)
34	EVA_GENOME_DK	ss1579576851	Apr 01, 2015 (144)
35	EVA_UK10K_ALSPAC	ss1639160384	Apr 01, 2015 (144)
36	EVA_UK10K_TWINSUK	ss1682154417	Apr 01, 2015 (144)
37	EVA_DECODE	ss1698970856	Apr 01, 2015 (144)
38	HAMMER_LAB	ss1809584589	Sep 08, 2015 (146)
39	WEILL_CORNELL_DGM	ss1938428478	Feb 12, 2016 (147)
40	GENOMED	ss1969171704	Jul 19, 2016 (147)
41	JJLAB	ss2029994713	Sep 14, 2016 (149)
42	USC_VALOUEV	ss2158566149	Dec 20, 2016 (150)
43	HUMAN_LONGEVITY	ss2244215324	Dec 20, 2016 (150)
44	SYSTEMSBIOZJU	ss2629490060	Nov 08, 2017 (151)
45	GRF	ss2704263680	Nov 08, 2017 (151)
46	GNOMAD	ss2969401203	Nov 08, 2017 (151)
47	SWEGEN	ss3018471161	Nov 08, 2017 (151)
48	BIOINF_KMB_FNS_UNIBA	ss3028830707	Nov 08, 2017 (151)
49	CSHL	ss3352594870	Nov 08, 2017 (151)
50	URBANLAB	ss3651055420	Oct 12, 2018 (152)
51	EGCUT_WGS	ss3685156686	Jul 13, 2019 (153)
52	EVA_DECODE	ss3707308438	Jul 13, 2019 (153)
53	ACPOP	ss3743550134	Jul 13, 2019 (153)
54	EVA	ss3758866037	Jul 13, 2019 (153)
55	PACBIO	ss3788694943	Jul 13, 2019 (153)
56	PACBIO	ss3793578844	Jul 13, 2019 (153)
57	PACBIO	ss3798466288	Jul 13, 2019 (153)
58	KHV_HUMAN_GENOMES	ss3822019880	Jul 13, 2019 (153)
59	EVA	ss3835763909	Apr 27, 2020 (154)
60	EVA	ss3841506901	Apr 27, 2020 (154)
61	EVA	ss3847020690	Apr 27, 2020 (154)
62	SGDP_PRJ	ss3889481157	Apr 27, 2020 (154)
63	KRGDB	ss3939806472	Apr 27, 2020 (154)
64	KOGIC	ss3982638255	Apr 27, 2020 (154)
65	TOPMED	ss5094627594	Apr 27, 2021 (155)
66	TOMMO_GENOMICS	ss5230455766	Apr 27, 2021 (155)
67	1000G_HIGH_COVERAGE	ss5309428766	Oct 13, 2022 (156)
68	EVA	ss5438558515	Oct 13, 2022 (156)
69	HUGCELL_USP	ss5501646055	Oct 13, 2022 (156)
70	EVA	ss5512263295	Oct 13, 2022 (156)
71	1000G_HIGH_COVERAGE	ss5616181700	Oct 13, 2022 (156)
72	SANFORD_IMAGENETICS	ss5663564628	Oct 13, 2022 (156)
73	TOMMO_GENOMICS	ss5790514597	Oct 13, 2022 (156)
74	YY_MCH	ss5818197695	Oct 13, 2022 (156)
75	EVA	ss5845941180	Oct 13, 2022 (156)
76	EVA	ss5853216129	Oct 13, 2022 (156)
77	EVA	ss5924151832	Oct 13, 2022 (156)
78	EVA	ss5958498361	Oct 13, 2022 (156)
79	EVA	ss5981099424	Oct 13, 2022 (156)
80	1000Genomes	NC_000020.10 - 61864990	Oct 12, 2018 (152)
81	1000Genomes_30x	NC_000020.11 - 63233638	Oct 13, 2022 (156)
82	The Avon Longitudinal Study of Parents and Children	NC_000020.10 - 61864990	Oct 12, 2018 (152)
83	Genetic variation in the Estonian population	NC_000020.10 - 61864990	Oct 12, 2018 (152)
84	The Danish reference pan genome	NC_000020.10 - 61864990	Apr 27, 2020 (154)
85	gnomAD - Genomes	NC_000020.11 - 63233638	Apr 27, 2021 (155)
86	Genome of the Netherlands Release 5	NC_000020.10 - 61864990	Apr 27, 2020 (154)
87	KOREAN population from KRGDB	NC_000020.10 - 61864990	Apr 27, 2020 (154)
88	Korean Genome Project	NC_000020.11 - 63233638	Apr 27, 2020 (154)
89	Northern Sweden	NC_000020.10 - 61864990	Jul 13, 2019 (153)
90	Qatari	NC_000020.10 - 61864990	Apr 27, 2020 (154)
91	SGDP_PRJ	NC_000020.10 - 61864990	Apr 27, 2020 (154)
92	Siberian	NC_000020.10 - 61864990	Apr 27, 2020 (154)
93	8.3KJPN	NC_000020.10 - 61864990	Apr 27, 2021 (155)
94	14KJPN	NC_000020.11 - 63233638	Oct 13, 2022 (156)
95	TopMed	NC_000020.11 - 63233638	Apr 27, 2021 (155)
96	UK 10K study - Twins	NC_000020.10 - 61864990	Oct 12, 2018 (152)
97	A Vietnamese Genetic Variation Database	NC_000020.10 - 61864990	Jul 13, 2019 (153)
98	ALFA	NC_000020.11 - 63233638	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)
rs61516050	May 27, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
46983866, ss3939806472	NC_000020.10:61864989:T:A	NC_000020.11:63233637:T:A	(self)
ss78595752, ss84696605, ss85931326, ss91755444, ss112243391, ss113570034, ss117609931, ss168426271, ss203945441, ss255771135, ss283445139, ss287485841, ss292598850, ss1698970856	NC_000020.9:61335434:T:C	NC_000020.11:63233637:T:C	(self)
78967906, 43725260, 30894934, 5741790, 19472352, 46983866, 16834999, 20470400, 41498137, 11082503, 88425073, 43725260, 9641627, ss228450584, ss237900697, ss244056596, ss662246839, ss994906025, ss1082337655, ss1365480034, ss1429105642, ss1579576851, ss1639160384, ss1682154417, ss1809584589, ss1938428478, ss1969171704, ss2029994713, ss2158566149, ss2629490060, ss2704263680, ss2969401203, ss3018471161, ss3352594870, ss3685156686, ss3743550134, ss3758866037, ss3788694943, ss3793578844, ss3798466288, ss3835763909, ss3841506901, ss3889481157, ss3939806472, ss5230455766, ss5438558515, ss5512263295, ss5663564628, ss5845941180, ss5958498361, ss5981099424	NC_000020.10:61864989:T:C	NC_000020.11:63233637:T:C	(self)
103707635, 556896922, 39016256, 124351701, 369736539, 2282672352, ss2244215324, ss3028830707, ss3651055420, ss3707308438, ss3822019880, ss3847020690, ss3982638255, ss5094627594, ss5309428766, ss5501646055, ss5616181700, ss5790514597, ss5818197695, ss5853216129, ss5924151832	NC_000020.11:63233637:T:C	NC_000020.11:63233637:T:C	(self)
ss6638406, ss8310858, ss19474241, ss20123525, ss21783695	NT_011333.5:601620:T:C	NC_000020.11:63233637:T:C	(self)
ss1345261, ss23789001, ss41402002, ss96241157, ss103785153, ss133067157, ss138271954	NT_011333.6:601620:T:C	NC_000020.11:63233637:T:C	(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 rs911055

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

rs911055