Name: rs9797819
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.

rs9797819

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr19:258275 (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>C
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.350289 (92718/264690, TOPMED)
T=0.337481 (47109/139590, GnomAD)
C=0.17722 (5008/28258, 14KJPN) (+ 14 more)
T=0.35156 (6641/18890, ALFA)
C=0.17912 (3002/16760, 8.3KJPN)
T=0.4430 (2837/6404, 1000G_30x)
T=0.4559 (2283/5008, 1000G)
T=0.4367 (1683/3854, ALSPAC)
T=0.4269 (1583/3708, TWINSUK)
C=0.1701 (497/2922, KOREAN)
C=0.1752 (321/1832, Korea1K)
T=0.422 (421/998, GoNL)
T=0.420 (252/600, NorthernSweden)
T=0.257 (96/374, SGDP_PRJ)
T=0.370 (80/216, Qatari)
T=0.33 (14/42, 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	18890	T=0.35156	C=0.64844
European	Sub	14286	T=0.38366	C=0.61634
African	Sub	2946	T=0.1443	C=0.8557
African Others	Sub	114	T=0.079	C=0.921
African American	Sub	2832	T=0.1469	C=0.8531
Asian	Sub	112	T=0.857	C=0.143
East Asian	Sub	86	T=0.90	C=0.10
Other Asian	Sub	26	T=0.73	C=0.27
Latin American 1	Sub	146	T=0.322	C=0.678
Latin American 2	Sub	610	T=0.490	C=0.510
South Asian	Sub	98	T=0.55	C=0.45
Other	Sub	692	T=0.345	C=0.655

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=0.350289	C=0.649711
gnomAD - Genomes	Global	Study-wide	139590	T=0.337481	C=0.662519
gnomAD - Genomes	European	Sub	75800	T=0.39524	C=0.60476
gnomAD - Genomes	African	Sub	41610	T=0.15186	C=0.84814
gnomAD - Genomes	American	Sub	13602	T=0.46317	C=0.53683
gnomAD - Genomes	Ashkenazi Jewish	Sub	3316	T=0.3088	C=0.6912
gnomAD - Genomes	East Asian	Sub	3126	T=0.8720	C=0.1280
gnomAD - Genomes	Other	Sub	2136	T=0.3656	C=0.6344
14KJPN	JAPANESE	Study-wide	28258	T=0.82278	C=0.17722
Allele Frequency Aggregator	Total	Global	18890	T=0.35156	C=0.64844
Allele Frequency Aggregator	European	Sub	14286	T=0.38366	C=0.61634
Allele Frequency Aggregator	African	Sub	2946	T=0.1443	C=0.8557
Allele Frequency Aggregator	Other	Sub	692	T=0.345	C=0.655
Allele Frequency Aggregator	Latin American 2	Sub	610	T=0.490	C=0.510
Allele Frequency Aggregator	Latin American 1	Sub	146	T=0.322	C=0.678
Allele Frequency Aggregator	Asian	Sub	112	T=0.857	C=0.143
Allele Frequency Aggregator	South Asian	Sub	98	T=0.55	C=0.45
8.3KJPN	JAPANESE	Study-wide	16760	T=0.82088	C=0.17912
1000Genomes_30x	Global	Study-wide	6404	T=0.4430	C=0.5570
1000Genomes_30x	African	Sub	1786	T=0.1137	C=0.8863
1000Genomes_30x	Europe	Sub	1266	T=0.3784	C=0.6216
1000Genomes_30x	South Asian	Sub	1202	T=0.5416	C=0.4584
1000Genomes_30x	East Asian	Sub	1170	T=0.8718	C=0.1282
1000Genomes_30x	American	Sub	980	T=0.494	C=0.506
1000Genomes	Global	Study-wide	5008	T=0.4559	C=0.5441
1000Genomes	African	Sub	1322	T=0.1195	C=0.8805
1000Genomes	East Asian	Sub	1008	T=0.8760	C=0.1240
1000Genomes	Europe	Sub	1006	T=0.3757	C=0.6243
1000Genomes	South Asian	Sub	978	T=0.533	C=0.467
1000Genomes	American	Sub	694	T=0.494	C=0.506
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.4367	C=0.5633
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.4269	C=0.5731
KOREAN population from KRGDB	KOREAN	Study-wide	2922	T=0.8299	C=0.1701
Korean Genome Project	KOREAN	Study-wide	1832	T=0.8248	C=0.1752
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.422	C=0.578
Northern Sweden	ACPOP	Study-wide	600	T=0.420	C=0.580
SGDP_PRJ	Global	Study-wide	374	T=0.257	C=0.743
Qatari	Global	Study-wide	216	T=0.370	C=0.630
Siberian	Global	Study-wide	42	T=0.33	C=0.67
The Danish reference pan genome	Danish	Study-wide	40	T=0.55	C=0.45

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 19	NC_000019.10:g.258275T>C
GRCh37.p13 chr 19	NC_000019.9:g.258275T>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=	C
GRCh38.p14 chr 19	NC_000019.10:g.258275=	NC_000019.10:g.258275T>C
GRCh37.p13 chr 19	NC_000019.9:g.258275=	NC_000019.9:g.258275T>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#.

53 SubSNP, 17 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss13626286	Dec 05, 2003 (119)
2	ILLUMINA-UK	ss117613101	Feb 14, 2009 (130)
3	ENSEMBL	ss161872738	Dec 01, 2009 (131)
4	BUSHMAN	ss203566737	Jul 04, 2010 (132)
5	BL	ss255419750	May 09, 2011 (134)
6	GMI	ss283092204	May 04, 2012 (137)
7	GMI	ss287331745	Apr 25, 2013 (138)
8	1000GENOMES	ss340260946	May 09, 2011 (134)
9	SSMP	ss661648850	Apr 25, 2013 (138)
10	EVA-GONL	ss993995709	Aug 21, 2014 (142)
11	JMKIDD_LAB	ss1081702592	Aug 21, 2014 (142)
12	1000GENOMES	ss1362000590	Aug 21, 2014 (142)
13	DDI	ss1428306273	Apr 01, 2015 (144)
14	EVA_GENOME_DK	ss1578519169	Apr 01, 2015 (144)
15	EVA_UK10K_ALSPAC	ss1637405240	Apr 01, 2015 (144)
16	EVA_UK10K_TWINSUK	ss1680399273	Apr 01, 2015 (144)
17	WEILL_CORNELL_DGM	ss1937469596	Feb 12, 2016 (147)
18	ILLUMINA	ss1959824384	Feb 12, 2016 (147)
19	GENOMED	ss1968590702	Jul 19, 2016 (147)
20	JJLAB	ss2029511281	Sep 14, 2016 (149)
21	USC_VALOUEV	ss2158020211	Dec 20, 2016 (150)
22	GRF	ss2702623933	Nov 08, 2017 (151)
23	GNOMAD	ss2959412611	Nov 08, 2017 (151)
24	SWEGEN	ss3016931967	Nov 08, 2017 (151)
25	ILLUMINA	ss3021864995	Nov 08, 2017 (151)
26	CSHL	ss3352151307	Nov 08, 2017 (151)
27	URBANLAB	ss3650849064	Oct 12, 2018 (152)
28	ILLUMINA	ss3652288679	Oct 12, 2018 (152)
29	ACPOP	ss3742772484	Jul 13, 2019 (153)
30	EVA	ss3755703572	Jul 13, 2019 (153)
31	PACBIO	ss3788442869	Jul 13, 2019 (153)
32	PACBIO	ss3793366402	Jul 13, 2019 (153)
33	PACBIO	ss3798252981	Jul 13, 2019 (153)
34	KHV_HUMAN_GENOMES	ss3820957734	Jul 13, 2019 (153)
35	EVA	ss3835302406	Apr 27, 2020 (154)
36	EVA	ss3841274055	Apr 27, 2020 (154)
37	EVA	ss3846777715	Apr 27, 2020 (154)
38	SGDP_PRJ	ss3887551002	Apr 27, 2020 (154)
39	KRGDB	ss3937466343	Apr 27, 2020 (154)
40	KOGIC	ss3980611425	Apr 27, 2020 (154)
41	TOPMED	ss5065094843	Apr 26, 2021 (155)
42	TOMMO_GENOMICS	ss5226273663	Apr 26, 2021 (155)
43	1000G_HIGH_COVERAGE	ss5306152400	Oct 16, 2022 (156)
44	EVA	ss5512026752	Oct 16, 2022 (156)
45	1000G_HIGH_COVERAGE	ss5611422743	Oct 16, 2022 (156)
46	SANFORD_IMAGENETICS	ss5661794092	Oct 16, 2022 (156)
47	TOMMO_GENOMICS	ss5784383431	Oct 16, 2022 (156)
48	YY_MCH	ss5817322653	Oct 16, 2022 (156)
49	EVA	ss5840122597	Oct 16, 2022 (156)
50	EVA	ss5852168457	Oct 16, 2022 (156)
51	EVA	ss5926949421	Oct 16, 2022 (156)
52	EVA	ss5953228554	Oct 16, 2022 (156)
53	EVA	ss5981021240	Oct 16, 2022 (156)
54	1000Genomes	NC_000019.9 - 258275	Oct 12, 2018 (152)
55	1000Genomes_30x	NC_000019.10 - 258275	Oct 16, 2022 (156)
56	The Avon Longitudinal Study of Parents and Children	NC_000019.9 - 258275	Oct 12, 2018 (152)
57	The Danish reference pan genome	NC_000019.9 - 258275	Apr 27, 2020 (154)
58	gnomAD - Genomes	NC_000019.10 - 258275	Apr 26, 2021 (155)
59	Genome of the Netherlands Release 5	NC_000019.9 - 258275	Apr 27, 2020 (154)
60	KOREAN population from KRGDB	NC_000019.9 - 258275	Apr 27, 2020 (154)
61	Korean Genome Project	NC_000019.10 - 258275	Apr 27, 2020 (154)
62	Northern Sweden	NC_000019.9 - 258275	Jul 13, 2019 (153)
63	Qatari	NC_000019.9 - 258275	Apr 27, 2020 (154)
64	SGDP_PRJ	NC_000019.9 - 258275	Apr 27, 2020 (154)
65	Siberian	NC_000019.9 - 258275	Apr 27, 2020 (154)
66	8.3KJPN	NC_000019.9 - 258275	Apr 26, 2021 (155)
67	14KJPN	NC_000019.10 - 258275	Oct 16, 2022 (156)
68	TopMed	NC_000019.10 - 258275	Apr 26, 2021 (155)
69	UK 10K study - Twins	NC_000019.9 - 258275	Oct 12, 2018 (152)
70	ALFA	NC_000019.10 - 258275	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss117613101, ss203566737, ss255419750, ss283092204, ss287331745	NC_000019.8:209274:T:C	NC_000019.10:258274:T:C	(self)
75364812, 41781288, 4706558, 18616224, 44643737, 16057349, 19511518, 39567982, 10536565, 84242970, 41781288, ss340260946, ss661648850, ss993995709, ss1081702592, ss1362000590, ss1428306273, ss1578519169, ss1637405240, ss1680399273, ss1937469596, ss1959824384, ss1968590702, ss2029511281, ss2158020211, ss2702623933, ss2959412611, ss3016931967, ss3021864995, ss3352151307, ss3652288679, ss3742772484, ss3755703572, ss3788442869, ss3793366402, ss3798252981, ss3835302406, ss3841274055, ss3887551002, ss3937466343, ss5226273663, ss5512026752, ss5661794092, ss5840122597, ss5953228554, ss5981021240	NC_000019.9:258274:T:C	NC_000019.10:258274:T:C	(self)
98948678, 531474422, 36989426, 118220535, 280640507, 4068346830, ss3650849064, ss3820957734, ss3846777715, ss3980611425, ss5065094843, ss5306152400, ss5611422743, ss5784383431, ss5817322653, ss5852168457, ss5926949421	NC_000019.10:258274:T:C	NC_000019.10:258274:T:C	(self)
ss13626286, ss161872738	NT_011255.14:198274:T:C	NC_000019.10:258274: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 rs9797819

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

rs9797819