Name: rs1819707
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.

rs1819707

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr13:18630892 (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: A>C / A>G / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.167932 (44450/264690, TOPMED)
A=0.162415 (22756/140110, GnomAD)
A=0.10181 (3040/29860, ALFA) (+ 15 more)
A=0.01815 (513/28258, 14KJPN)
A=0.01736 (291/16760, 8.3KJPN)
A=0.1665 (1066/6404, 1000G_30x)
A=0.1554 (778/5008, 1000G)
A=0.0651 (251/3854, ALSPAC)
A=0.0709 (263/3708, TWINSUK)
A=0.0379 (111/2930, KOREAN)
A=0.0349 (64/1832, Korea1K)
A=0.070 (70/998, GoNL)
A=0.043 (26/600, NorthernSweden)
A=0.081 (43/534, SGDP_PRJ)
A=0.120 (26/216, Qatari)
A=0.042 (9/216, Vietnamese)
A=0.04 (2/56, Siberian)
A=0.10 (4/40, 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	29860	A=0.10181	G=0.89819
European	Sub	24450	A=0.06487	G=0.93513
African	Sub	3136	A=0.3893	G=0.6107
African Others	Sub	124	A=0.444	G=0.556
African American	Sub	3012	A=0.3871	G=0.6129
Asian	Sub	126	A=0.016	G=0.984
East Asian	Sub	98	A=0.02	G=0.98
Other Asian	Sub	28	A=0.00	G=1.00
Latin American 1	Sub	164	A=0.116	G=0.884
Latin American 2	Sub	684	A=0.061	G=0.939
South Asian	Sub	114	A=0.167	G=0.833
Other	Sub	1186	A=0.1273	G=0.8727

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	A=0.167932	G=0.832068
gnomAD - Genomes	Global	Study-wide	140110	A=0.162415	G=0.837585
gnomAD - Genomes	European	Sub	75918	A=0.06673	G=0.93327
gnomAD - Genomes	African	Sub	41930	A=0.38066	G=0.61934
gnomAD - Genomes	American	Sub	13660	A=0.08397	G=0.91603
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	A=0.0475	G=0.9525
gnomAD - Genomes	East Asian	Sub	3132	A=0.0316	G=0.9684
gnomAD - Genomes	Other	Sub	2146	A=0.1514	G=0.8486
Allele Frequency Aggregator	Total	Global	29860	A=0.10181	G=0.89819
Allele Frequency Aggregator	European	Sub	24450	A=0.06487	G=0.93513
Allele Frequency Aggregator	African	Sub	3136	A=0.3893	G=0.6107
Allele Frequency Aggregator	Other	Sub	1186	A=0.1273	G=0.8727
Allele Frequency Aggregator	Latin American 2	Sub	684	A=0.061	G=0.939
Allele Frequency Aggregator	Latin American 1	Sub	164	A=0.116	G=0.884
Allele Frequency Aggregator	Asian	Sub	126	A=0.016	G=0.984
Allele Frequency Aggregator	South Asian	Sub	114	A=0.167	G=0.833
14KJPN	JAPANESE	Study-wide	28258	A=0.01815	G=0.98185
8.3KJPN	JAPANESE	Study-wide	16760	A=0.01736	G=0.98264
1000Genomes_30x	Global	Study-wide	6404	A=0.1665	G=0.8335
1000Genomes_30x	African	Sub	1786	A=0.4227	G=0.5773
1000Genomes_30x	Europe	Sub	1266	A=0.0821	G=0.9179
1000Genomes_30x	South Asian	Sub	1202	A=0.0807	G=0.9193
1000Genomes_30x	East Asian	Sub	1170	A=0.0325	G=0.9675
1000Genomes_30x	American	Sub	980	A=0.073	G=0.927
1000Genomes	Global	Study-wide	5008	A=0.1554	G=0.8446
1000Genomes	African	Sub	1322	A=0.4145	G=0.5855
1000Genomes	East Asian	Sub	1008	A=0.0248	G=0.9752
1000Genomes	Europe	Sub	1006	A=0.0765	G=0.9235
1000Genomes	South Asian	Sub	978	A=0.083	G=0.917
1000Genomes	American	Sub	694	A=0.068	G=0.932
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.0651	G=0.9349
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.0709	G=0.9291
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.0379	C=0.0000, G=0.9621, T=0.0000
Korean Genome Project	KOREAN	Study-wide	1832	A=0.0349	G=0.9651
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.070	G=0.930
Northern Sweden	ACPOP	Study-wide	600	A=0.043	G=0.957
SGDP_PRJ	Global	Study-wide	534	A=0.081	G=0.919
Qatari	Global	Study-wide	216	A=0.120	G=0.880
A Vietnamese Genetic Variation Database	Global	Study-wide	216	A=0.042	G=0.958
Siberian	Global	Study-wide	56	A=0.04	G=0.96
The Danish reference pan genome	Danish	Study-wide	40	A=0.10	G=0.90

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 13	NC_000013.11:g.18630892A>C
GRCh38.p14 chr 13	NC_000013.11:g.18630892A>G
GRCh38.p14 chr 13	NC_000013.11:g.18630892A>T
GRCh37.p13 chr 13	NC_000013.10:g.19205032A>C
GRCh37.p13 chr 13	NC_000013.10:g.19205032A>G
GRCh37.p13 chr 13	NC_000013.10:g.19205032A>T

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	A=	C	G	T
GRCh38.p14 chr 13	NC_000013.11:g.18630892=	NC_000013.11:g.18630892A>C	NC_000013.11:g.18630892A>G	NC_000013.11:g.18630892A>T
GRCh37.p13 chr 13	NC_000013.10:g.19205032=	NC_000013.10:g.19205032A>C	NC_000013.10:g.19205032A>G	NC_000013.10:g.19205032A>T

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#.

84 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss2686214	Jan 12, 2001 (92)
2	BCM_SSAHASNP	ss11086237	Jul 11, 2003 (116)
3	WI_SSAHASNP	ss12256196	Jul 11, 2003 (116)
4	SC_SNP	ss13164111	Dec 05, 2003 (119)
5	SSAHASNP	ss21127069	Apr 05, 2004 (121)
6	HGSV	ss77141744	Dec 06, 2007 (129)
7	HGSV	ss78045969	Dec 06, 2007 (129)
8	HGSV	ss81156639	Dec 14, 2007 (130)
9	HGSV	ss81731782	Dec 14, 2007 (130)
10	BCMHGSC_JDW	ss89496703	Mar 24, 2008 (129)
11	HUMANGENOME_JCVI	ss96946447	Feb 04, 2009 (130)
12	BGI	ss106315245	Feb 04, 2009 (130)
13	1000GENOMES	ss112573894	Jan 25, 2009 (130)
14	ILLUMINA-UK	ss118370090	Feb 14, 2009 (130)
15	ENSEMBL	ss133451856	Dec 01, 2009 (131)
16	ENSEMBL	ss137303289	Dec 01, 2009 (131)
17	GMI	ss158093667	Dec 01, 2009 (131)
18	COMPLETE_GENOMICS	ss167614744	Jul 04, 2010 (132)
19	COMPLETE_GENOMICS	ss168824191	Jul 04, 2010 (132)
20	COMPLETE_GENOMICS	ss170815724	Jul 04, 2010 (132)
21	BUSHMAN	ss198909635	Jul 04, 2010 (132)
22	BCM-HGSC-SUB	ss208676091	Jul 04, 2010 (132)
23	1000GENOMES	ss211366990	Jul 14, 2010 (132)
24	1000GENOMES	ss226054482	Jul 14, 2010 (132)
25	1000GENOMES	ss236155682	Jul 15, 2010 (132)
26	1000GENOMES	ss242671338	Jul 15, 2010 (132)
27	BL	ss254804336	May 09, 2011 (134)
28	GMI	ss281616442	May 04, 2012 (137)
29	GMI	ss286657306	Apr 25, 2013 (138)
30	PJP	ss291545155	May 09, 2011 (134)
31	ILLUMINA	ss483159638	May 04, 2012 (137)
32	ILLUMINA	ss483793380	May 04, 2012 (137)
33	ILLUMINA	ss535991565	Sep 08, 2015 (146)
34	TISHKOFF	ss563518771	Apr 25, 2013 (138)
35	SSMP	ss659107487	Apr 25, 2013 (138)
36	ILLUMINA	ss779148683	Aug 21, 2014 (142)
37	ILLUMINA	ss782340266	Aug 21, 2014 (142)
38	ILLUMINA	ss834613512	Aug 21, 2014 (142)
39	EVA-GONL	ss990138653	Aug 21, 2014 (142)
40	1000GENOMES	ss1347311609	Aug 21, 2014 (142)
41	DDI	ss1427109313	Apr 01, 2015 (144)
42	EVA_GENOME_DK	ss1576632975	Apr 01, 2015 (144)
43	EVA_UK10K_ALSPAC	ss1629797062	Apr 01, 2015 (144)
44	EVA_UK10K_TWINSUK	ss1672791095	Apr 01, 2015 (144)
45	HAMMER_LAB	ss1807501910	Sep 08, 2015 (146)
46	WEILL_CORNELL_DGM	ss1933503864	Feb 12, 2016 (147)
47	GENOMED	ss1967720796	Jul 19, 2016 (147)
48	JJLAB	ss2027505707	Sep 14, 2016 (149)
49	USC_VALOUEV	ss2155867775	Dec 20, 2016 (150)
50	ILLUMINA	ss2633033170	Nov 08, 2017 (151)
51	GRF	ss2700235562	Nov 08, 2017 (151)
52	GNOMAD	ss2917082116	Nov 08, 2017 (151)
53	SWEGEN	ss3010634603	Nov 08, 2017 (151)
54	BIOINF_KMB_FNS_UNIBA	ss3027566616	Nov 08, 2017 (151)
55	CSHL	ss3350336348	Nov 08, 2017 (151)
56	ILLUMINA	ss3627011414	Oct 12, 2018 (152)
57	ILLUMINA	ss3631038029	Oct 12, 2018 (152)
58	URBANLAB	ss3649972907	Oct 12, 2018 (152)
59	EVA_DECODE	ss3694827961	Jul 13, 2019 (153)
60	ACPOP	ss3739535907	Jul 13, 2019 (153)
61	EVA	ss3751177903	Jul 13, 2019 (153)
62	PACBIO	ss3787387507	Jul 13, 2019 (153)
63	PACBIO	ss3792463279	Jul 13, 2019 (153)
64	PACBIO	ss3797346863	Jul 13, 2019 (153)
65	KHV_HUMAN_GENOMES	ss3816505174	Jul 13, 2019 (153)
66	EVA	ss3833419860	Apr 27, 2020 (154)
67	EVA	ss3840283406	Apr 27, 2020 (154)
68	EVA	ss3845767358	Apr 27, 2020 (154)
69	SGDP_PRJ	ss3879489050	Apr 27, 2020 (154)
70	KRGDB	ss3928294193	Apr 27, 2020 (154)
71	KOGIC	ss3973115779	Apr 27, 2020 (154)
72	TOPMED	ss4938440175	Apr 26, 2021 (155)
73	TOMMO_GENOMICS	ss5208966512	Apr 26, 2021 (155)
74	1000G_HIGH_COVERAGE	ss5292928020	Oct 16, 2022 (156)
75	EVA	ss5409325900	Oct 16, 2022 (156)
76	HUGCELL_USP	ss5487381362	Oct 16, 2022 (156)
77	1000G_HIGH_COVERAGE	ss5591488380	Oct 16, 2022 (156)
78	SANFORD_IMAGENETICS	ss5654300807	Oct 16, 2022 (156)
79	TOMMO_GENOMICS	ss5760545891	Oct 16, 2022 (156)
80	YY_MCH	ss5813903249	Oct 16, 2022 (156)
81	EVA	ss5839150698	Oct 16, 2022 (156)
82	EVA	ss5850624911	Oct 16, 2022 (156)
83	EVA	ss5924193039	Oct 16, 2022 (156)
84	EVA	ss5945710560	Oct 16, 2022 (156)
85	1000Genomes	NC_000013.10 - 19205032	Oct 12, 2018 (152)
86	1000Genomes_30x	NC_000013.11 - 18630892	Oct 16, 2022 (156)
87	The Avon Longitudinal Study of Parents and Children	NC_000013.10 - 19205032	Oct 12, 2018 (152)
88	The Danish reference pan genome	NC_000013.10 - 19205032	Apr 27, 2020 (154)
89	gnomAD - Genomes	NC_000013.11 - 18630892	Apr 26, 2021 (155)
90	Genome of the Netherlands Release 5	NC_000013.10 - 19205032	Apr 27, 2020 (154)
91	KOREAN population from KRGDB	NC_000013.10 - 19205032	Apr 27, 2020 (154)
92	Korean Genome Project	NC_000013.11 - 18630892	Apr 27, 2020 (154)
93	Northern Sweden	NC_000013.10 - 19205032	Jul 13, 2019 (153)
94	Qatari	NC_000013.10 - 19205032	Apr 27, 2020 (154)
95	SGDP_PRJ	NC_000013.10 - 19205032	Apr 27, 2020 (154)
96	Siberian	NC_000013.10 - 19205032	Apr 27, 2020 (154)
97	8.3KJPN	NC_000013.10 - 19205032	Apr 26, 2021 (155)
98	14KJPN	NC_000013.11 - 18630892	Oct 16, 2022 (156)
99	TopMed	NC_000013.11 - 18630892	Apr 26, 2021 (155)
100	UK 10K study - Twins	NC_000013.10 - 19205032	Oct 12, 2018 (152)
101	A Vietnamese Genetic Variation Database	NC_000013.10 - 19205032	Jul 13, 2019 (153)
102	ALFA	NC_000013.11 - 18630892	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)
rs58095694	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
35471587, ss3928294193	NC_000013.10:19205031:A:C	NC_000013.11:18630891:A:C	(self)
ss77141744, ss78045969, ss81156639, ss81731782, ss89496703, ss112573894, ss118370090, ss167614744, ss168824191, ss170815724, ss198909635, ss208676091, ss211366990, ss254804336, ss281616442, ss286657306, ss291545155, ss483159638	NC_000013.9:18103031:A:G	NC_000013.11:18630891:A:G	(self)
60147448, 33405439, 3197432, 14898495, 35471587, 12820772, 15545794, 31506030, 8384129, 66935819, 33405439, 7409121, ss226054482, ss236155682, ss242671338, ss483793380, ss535991565, ss563518771, ss659107487, ss779148683, ss782340266, ss834613512, ss990138653, ss1347311609, ss1427109313, ss1576632975, ss1629797062, ss1672791095, ss1807501910, ss1933503864, ss1967720796, ss2027505707, ss2155867775, ss2633033170, ss2700235562, ss2917082116, ss3010634603, ss3350336348, ss3627011414, ss3631038029, ss3739535907, ss3751177903, ss3787387507, ss3792463279, ss3797346863, ss3833419860, ss3840283406, ss3879489050, ss3928294193, ss5208966512, ss5409325900, ss5654300807, ss5839150698, ss5945710560	NC_000013.10:19205031:A:G	NC_000013.11:18630891:A:G	(self)
79014315, 424234872, 29493780, 94382995, 153985833, 15385021272, ss3027566616, ss3649972907, ss3694827961, ss3816505174, ss3845767358, ss3973115779, ss4938440175, ss5292928020, ss5487381362, ss5591488380, ss5760545891, ss5813903249, ss5850624911, ss5924193039	NC_000013.11:18630891:A:G	NC_000013.11:18630891:A:G	(self)
ss11086237, ss12256196, ss13164111	NT_009799.12:185031:A:G	NC_000013.11:18630891:A:G	(self)
ss21127069	NT_024524.13:185031:A:G	NC_000013.11:18630891:A:G	(self)
ss2686214, ss96946447, ss106315245, ss133451856, ss137303289, ss158093667	NT_024524.14:185031:A:G	NC_000013.11:18630891:A:G	(self)
35471587, ss3928294193	NC_000013.10:19205031:A:T	NC_000013.11:18630891:A:T	(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 rs1819707

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

rs1819707