Name: rs800814
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.

rs800814

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:187883122 (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
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.029442 (7793/264690, TOPMED)
T=0.027821 (3882/139536, GnomAD)
T=0.00000 (0/28248, 14KJPN) (+ 14 more)
T=0.01588 (300/18890, ALFA)
T=0.00000 (0/16756, 8.3KJPN)
T=0.0298 (191/6404, 1000G_30x)
T=0.0280 (140/5008, 1000G)
T=0.0003 (1/3854, ALSPAC)
T=0.0000 (0/3708, TWINSUK)
T=0.0000 (0/2930, KOREAN)
T=0.0000 (0/1832, Korea1K)
T=0.000 (0/600, NorthernSweden)
T=0.007 (4/558, SGDP_PRJ)
T=0.028 (6/216, Qatari)
T=0.000 (0/214, Vietnamese)
T=0.00 (0/56, Siberian)
T=0.00 (0/40, 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=0.01588	A=0.98412
European	Sub	14286	T=0.00021	A=0.99979
African	Sub	2946	T=0.0947	A=0.9053
African Others	Sub	114	T=0.140	A=0.860
African American	Sub	2832	T=0.0929	A=0.9071
Asian	Sub	112	T=0.000	A=1.000
East Asian	Sub	86	T=0.00	A=1.00
Other Asian	Sub	26	T=0.00	A=1.00
Latin American 1	Sub	146	T=0.034	A=0.966
Latin American 2	Sub	610	T=0.003	A=0.997
South Asian	Sub	98	T=0.00	A=1.00
Other	Sub	692	T=0.016	A=0.984

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	T=0.029442	A=0.970558
gnomAD - Genomes	Global	Study-wide	139536	T=0.027821	A=0.972179
gnomAD - Genomes	European	Sub	75526	T=0.00029	A=0.99971
gnomAD - Genomes	African	Sub	41916	T=0.08789	A=0.91211
gnomAD - Genomes	American	Sub	13542	T=0.00916	A=0.99084
gnomAD - Genomes	Ashkenazi Jewish	Sub	3312	T=0.0000	A=1.0000
gnomAD - Genomes	East Asian	Sub	3104	T=0.0003	A=0.9997
gnomAD - Genomes	Other	Sub	2136	T=0.0239	A=0.9761
14KJPN	JAPANESE	Study-wide	28248	T=0.00000	A=1.00000
Allele Frequency Aggregator	Total	Global	18890	T=0.01588	A=0.98412
Allele Frequency Aggregator	European	Sub	14286	T=0.00021	A=0.99979
Allele Frequency Aggregator	African	Sub	2946	T=0.0947	A=0.9053
Allele Frequency Aggregator	Other	Sub	692	T=0.016	A=0.984
Allele Frequency Aggregator	Latin American 2	Sub	610	T=0.003	A=0.997
Allele Frequency Aggregator	Latin American 1	Sub	146	T=0.034	A=0.966
Allele Frequency Aggregator	Asian	Sub	112	T=0.000	A=1.000
Allele Frequency Aggregator	South Asian	Sub	98	T=0.00	A=1.00
8.3KJPN	JAPANESE	Study-wide	16756	T=0.00000	A=1.00000
1000Genomes_30x	Global	Study-wide	6404	T=0.0298	A=0.9702
1000Genomes_30x	African	Sub	1786	T=0.1013	A=0.8987
1000Genomes_30x	Europe	Sub	1266	T=0.0000	A=1.0000
1000Genomes_30x	South Asian	Sub	1202	T=0.0000	A=1.0000
1000Genomes_30x	East Asian	Sub	1170	T=0.0000	A=1.0000
1000Genomes_30x	American	Sub	980	T=0.010	A=0.990
1000Genomes	Global	Study-wide	5008	T=0.0280	A=0.9720
1000Genomes	African	Sub	1322	T=0.0998	A=0.9002
1000Genomes	East Asian	Sub	1008	T=0.0000	A=1.0000
1000Genomes	Europe	Sub	1006	T=0.0000	A=1.0000
1000Genomes	South Asian	Sub	978	T=0.000	A=1.000
1000Genomes	American	Sub	694	T=0.012	A=0.988
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.0003	A=0.9997
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.0000	A=1.0000
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.0000	A=1.0000
Korean Genome Project	KOREAN	Study-wide	1832	T=0.0000	A=1.0000
Northern Sweden	ACPOP	Study-wide	600	T=0.000	A=1.000
SGDP_PRJ	Global	Study-wide	558	T=0.007	A=0.993
Qatari	Global	Study-wide	216	T=0.028	A=0.972
A Vietnamese Genetic Variation Database	Global	Study-wide	214	T=0.000	A=1.000
Siberian	Global	Study-wide	56	T=0.00	A=1.00
The Danish reference pan genome	Danish	Study-wide	40	T=0.00	A=1.00

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.187883122T>A
GRCh37.p13 chr 1	NC_000001.10:g.187852253T>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	T=	A
GRCh38.p14 chr 1	NC_000001.11:g.187883122=	NC_000001.11:g.187883122T>A
GRCh37.p13 chr 1	NC_000001.10:g.187852253=	NC_000001.10:g.187852253T>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#.

72 SubSNP, 17 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	KWOK	ss1009104	Oct 05, 2000 (86)
2	KWOK	ss1821209	Oct 18, 2000 (87)
3	SC_JCM	ss3485709	Sep 28, 2001 (100)
4	SC_SNP	ss8820743	Jul 11, 2003 (116)
5	SC_SNP	ss15380584	Feb 27, 2004 (120)
6	CSHL-HAPMAP	ss19134574	Feb 27, 2004 (120)
7	SSAHASNP	ss20547876	Apr 05, 2004 (123)
8	HGSV	ss83607549	Dec 15, 2007 (130)
9	BCMHGSC_JDW	ss87902938	Mar 23, 2008 (129)
10	HUMANGENOME_JCVI	ss97990064	Feb 05, 2009 (130)
11	BGI	ss106617091	Feb 05, 2009 (130)
12	1000GENOMES	ss108781051	Jan 23, 2009 (130)
13	1000GENOMES	ss111495266	Jan 25, 2009 (130)
14	ILLUMINA-UK	ss119136882	Feb 15, 2009 (130)
15	ENSEMBL	ss138120809	Dec 01, 2009 (131)
16	ENSEMBL	ss139133262	Dec 01, 2009 (131)
17	GMI	ss156039708	Dec 01, 2009 (131)
18	COMPLETE_GENOMICS	ss164679744	Jul 04, 2010 (132)
19	BUSHMAN	ss199369011	Jul 04, 2010 (132)
20	BCM-HGSC-SUB	ss205130196	Jul 04, 2010 (132)
21	1000GENOMES	ss218774526	Jul 14, 2010 (132)
22	1000GENOMES	ss230822149	Jul 14, 2010 (132)
23	1000GENOMES	ss238450120	Jul 15, 2010 (132)
24	GMI	ss276138419	May 04, 2012 (137)
25	GMI	ss284191909	Apr 25, 2013 (138)
26	PJP	ss290683554	May 09, 2011 (134)
27	SSMP	ss648565961	Apr 25, 2013 (138)
28	JMKIDD_LAB	ss1068445463	Aug 21, 2014 (142)
29	1000GENOMES	ss1293845195	Aug 21, 2014 (142)
30	DDI	ss1426049056	Apr 01, 2015 (144)
31	EVA_GENOME_DK	ss1574542881	Apr 01, 2015 (144)
32	EVA_UK10K_ALSPAC	ss1601706731	Apr 01, 2015 (144)
33	EVA_UK10K_TWINSUK	ss1644700764	Apr 01, 2015 (144)
34	HAMMER_LAB	ss1795432166	Sep 08, 2015 (146)
35	WEILL_CORNELL_DGM	ss1919159031	Feb 12, 2016 (147)
36	GENOMED	ss1966922400	Jul 19, 2016 (147)
37	JJLAB	ss2020096023	Sep 14, 2016 (149)
38	USC_VALOUEV	ss2148124369	Dec 20, 2016 (150)
39	HUMAN_LONGEVITY	ss2168425615	Dec 20, 2016 (150)
40	SYSTEMSBIOZJU	ss2624556020	Nov 08, 2017 (151)
41	GRF	ss2698109091	Nov 08, 2017 (151)
42	GNOMAD	ss2763921026	Nov 08, 2017 (151)
43	SWEGEN	ss2988121325	Nov 08, 2017 (151)
44	CSHL	ss3343817405	Nov 08, 2017 (151)
45	BIOINF_KMB_FNS_UNIBA	ss3645085737	Oct 11, 2018 (152)
46	URBANLAB	ss3646840569	Oct 11, 2018 (152)
47	EVA_DECODE	ss3688228304	Jul 12, 2019 (153)
48	ACPOP	ss3727683269	Jul 12, 2019 (153)
49	EVA	ss3747088985	Jul 12, 2019 (153)
50	PACBIO	ss3783631593	Jul 12, 2019 (153)
51	PACBIO	ss3789252292	Jul 12, 2019 (153)
52	PACBIO	ss3794124428	Jul 12, 2019 (153)
53	KHV_HUMAN_GENOMES	ss3800090630	Jul 12, 2019 (153)
54	EVA	ss3826541988	Apr 25, 2020 (154)
55	EVA	ss3836667819	Apr 25, 2020 (154)
56	EVA	ss3842078321	Apr 25, 2020 (154)
57	SGDP_PRJ	ss3850479031	Apr 25, 2020 (154)
58	KRGDB	ss3895747224	Apr 25, 2020 (154)
59	KOGIC	ss3946101184	Apr 25, 2020 (154)
60	TOPMED	ss4476419485	Apr 25, 2021 (155)
61	TOMMO_GENOMICS	ss5147516722	Apr 25, 2021 (155)
62	1000G_HIGH_COVERAGE	ss5245089216	Oct 12, 2022 (156)
63	EVA	ss5323508217	Oct 12, 2022 (156)
64	HUGCELL_USP	ss5445593948	Oct 12, 2022 (156)
65	1000G_HIGH_COVERAGE	ss5518820256	Oct 12, 2022 (156)
66	SANFORD_IMAGENETICS	ss5627044953	Oct 12, 2022 (156)
67	TOMMO_GENOMICS	ss5675013149	Oct 12, 2022 (156)
68	YY_MCH	ss5801459470	Oct 12, 2022 (156)
69	EVA	ss5832980074	Oct 12, 2022 (156)
70	EVA	ss5849199631	Oct 12, 2022 (156)
71	EVA	ss5911164408	Oct 12, 2022 (156)
72	EVA	ss5938864712	Oct 12, 2022 (156)
73	1000Genomes	NC_000001.10 - 187852253	Oct 11, 2018 (152)
74	1000Genomes_30x	NC_000001.11 - 187883122	Oct 12, 2022 (156)
75	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 187852253	Oct 11, 2018 (152)
76	The Danish reference pan genome	NC_000001.10 - 187852253	Apr 25, 2020 (154)
77	gnomAD - Genomes	NC_000001.11 - 187883122	Apr 25, 2021 (155)
78	KOREAN population from KRGDB	NC_000001.10 - 187852253	Apr 25, 2020 (154)
79	Korean Genome Project	NC_000001.11 - 187883122	Apr 25, 2020 (154)
80	Northern Sweden	NC_000001.10 - 187852253	Jul 12, 2019 (153)
81	Qatari	NC_000001.10 - 187852253	Apr 25, 2020 (154)
82	SGDP_PRJ	NC_000001.10 - 187852253	Apr 25, 2020 (154)
83	Siberian	NC_000001.10 - 187852253	Apr 25, 2020 (154)
84	8.3KJPN	NC_000001.10 - 187852253	Apr 25, 2021 (155)
85	14KJPN	NC_000001.11 - 187883122	Oct 12, 2022 (156)
86	TopMed	NC_000001.11 - 187883122	Apr 25, 2021 (155)
87	UK 10K study - Twins	NC_000001.10 - 187852253	Oct 11, 2018 (152)
88	A Vietnamese Genetic Variation Database	NC_000001.10 - 187852253	Jul 12, 2019 (153)
89	ALFA	NC_000001.11 - 187883122	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)
rs12747356	Sep 24, 2004 (123)
rs58731712	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss83607549	NC_000001.8:184583909:T:A	NC_000001.11:187883121:T:A	(self)
ss87902938, ss108781051, ss111495266, ss119136882, ss164679744, ss199369011, ss205130196, ss276138419, ss284191909, ss290683554	NC_000001.9:186118875:T:A	NC_000001.11:187883121:T:A	(self)
4669653, 2562026, 1801313, 2924618, 968134, 1200961, 2496011, 640723, 5486029, 2562026, 550096, ss218774526, ss230822149, ss238450120, ss648565961, ss1068445463, ss1293845195, ss1426049056, ss1574542881, ss1601706731, ss1644700764, ss1795432166, ss1919159031, ss1966922400, ss2020096023, ss2148124369, ss2624556020, ss2698109091, ss2763921026, ss2988121325, ss3343817405, ss3727683269, ss3747088985, ss3783631593, ss3789252292, ss3794124428, ss3826541988, ss3836667819, ss3850479031, ss3895747224, ss5147516722, ss5323508217, ss5627044953, ss5832980074, ss5938864712	NC_000001.10:187852252:T:A	NC_000001.11:187883121:T:A	(self)
6346191, 33680546, 2479185, 8850253, 40025820, 2421555425, ss2168425615, ss3645085737, ss3646840569, ss3688228304, ss3800090630, ss3842078321, ss3946101184, ss4476419485, ss5245089216, ss5445593948, ss5518820256, ss5675013149, ss5801459470, ss5849199631, ss5911164408	NC_000001.11:187883121:T:A	NC_000001.11:187883121:T:A	(self)
ss15380584, ss19134574, ss20547876	NT_004487.16:16900360:T:A	NC_000001.11:187883121:T:A	(self)
ss1009104, ss1821209, ss3485709, ss8820743, ss97990064, ss106617091, ss138120809, ss139133262, ss156039708	NT_004487.19:39340894:T:A	NC_000001.11:187883121:T: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 rs800814

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

rs800814