Name: rs719065
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.

rs719065

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:165632 (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=0.272368 (72093/264690, TOPMED)
A=0.19265 (6060/31456, ALFA)
G=0.45308 (12803/28258, 14KJPN) (+ 8 more)
A=0.3498 (2240/6404, 1000G_30x)
G=0.4300 (1260/2930, KOREAN)
A=0.2932 (611/2084, HGDP_Stanford)
A=0.4131 (780/1888, HapMap)
G=0.4116 (754/1832, Korea1K)
A=0.00 (0/74, SGDP_PRJ)
G=0.32 (22/68, Qatari)
A=0.21 (11/52, Siberian)

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	31456	A=0.19265	G=0.80735
European	Sub	21814	A=0.12927	G=0.87073
African	Sub	4282	A=0.4876	G=0.5124
African Others	Sub	158	A=0.519	G=0.481
African American	Sub	4124	A=0.4864	G=0.5136
Asian	Sub	134	A=0.478	G=0.522
East Asian	Sub	106	A=0.434	G=0.566
Other Asian	Sub	28	A=0.64	G=0.36
Latin American 1	Sub	258	A=0.209	G=0.791
Latin American 2	Sub	2752	A=0.2235	G=0.7765
South Asian	Sub	114	A=0.246	G=0.754
Other	Sub	2102	A=0.1860	G=0.8140

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	A=0.272368	G=0.727632
Allele Frequency Aggregator	Total	Global	31456	A=0.19265	G=0.80735
Allele Frequency Aggregator	European	Sub	21814	A=0.12927	G=0.87073
Allele Frequency Aggregator	African	Sub	4282	A=0.4876	G=0.5124
Allele Frequency Aggregator	Latin American 2	Sub	2752	A=0.2235	G=0.7765
Allele Frequency Aggregator	Other	Sub	2102	A=0.1860	G=0.8140
Allele Frequency Aggregator	Latin American 1	Sub	258	A=0.209	G=0.791
Allele Frequency Aggregator	Asian	Sub	134	A=0.478	G=0.522
Allele Frequency Aggregator	South Asian	Sub	114	A=0.246	G=0.754
14KJPN	JAPANESE	Study-wide	28258	A=0.54692	G=0.45308
1000Genomes_30x	Global	Study-wide	6404	A=0.3498	G=0.6502
1000Genomes_30x	African	Sub	1786	A=0.5241	G=0.4759
1000Genomes_30x	Europe	Sub	1266	A=0.1201	G=0.8799
1000Genomes_30x	South Asian	Sub	1202	A=0.1822	G=0.8178
1000Genomes_30x	East Asian	Sub	1170	A=0.5598	G=0.4402
1000Genomes_30x	American	Sub	980	A=0.284	G=0.716
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.5693	C=0.0007, G=0.4300
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	A=0.2932	G=0.7068
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	A=0.566	G=0.434
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	A=0.150	G=0.850
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	A=0.077	G=0.923
HGDP-CEPH-db Supplement 1	Europe	Sub	320	A=0.109	G=0.891
HGDP-CEPH-db Supplement 1	Africa	Sub	242	A=0.401	G=0.599
HGDP-CEPH-db Supplement 1	America	Sub	216	A=0.468	G=0.532
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	A=0.32	G=0.68
HapMap	Global	Study-wide	1888	A=0.4131	G=0.5869
HapMap	American	Sub	768	A=0.290	G=0.710
HapMap	African	Sub	690	A=0.564	G=0.436
HapMap	Asian	Sub	254	A=0.583	G=0.417
HapMap	Europe	Sub	176	A=0.114	G=0.886
Korean Genome Project	KOREAN	Study-wide	1832	A=0.5884	G=0.4116
SGDP_PRJ	Global	Study-wide	74	A=0.00	G=1.00
Qatari	Global	Study-wide	68	A=0.68	G=0.32
Siberian	Global	Study-wide	52	A=0.21	G=0.79

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 6	NC_000006.12:g.165632A>C
GRCh38.p14 chr 6	NC_000006.12:g.165632A>G
GRCh38.p14 chr 6	NC_000006.12:g.165632A>T
GRCh37.p13 chr 6	NC_000006.11:g.165632A>C
GRCh37.p13 chr 6	NC_000006.11:g.165632A>G
GRCh37.p13 chr 6	NC_000006.11:g.165632A>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 6	NC_000006.12:g.165632=	NC_000006.12:g.165632A>C	NC_000006.12:g.165632A>G	NC_000006.12:g.165632A>T
GRCh37.p13 chr 6	NC_000006.11:g.165632=	NC_000006.11:g.165632A>C	NC_000006.11:g.165632A>G	NC_000006.11:g.165632A>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#.

86 SubSNP, 13 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss59435	Oct 05, 2000 (86)
2	WI_SSAHASNP	ss6863319	Feb 20, 2003 (111)
3	BCM_SSAHASNP	ss10325387	Jul 11, 2003 (116)
4	WI_SSAHASNP	ss11820414	Jul 11, 2003 (116)
5	SC_SNP	ss12920143	Dec 05, 2003 (119)
6	CSHL-HAPMAP	ss17128888	Feb 27, 2004 (120)
7	SSAHASNP	ss22397352	Apr 05, 2004 (121)
8	PERLEGEN	ss23658161	Sep 21, 2004 (123)
9	ABI	ss44683976	Mar 14, 2006 (126)
10	ILLUMINA	ss65719552	Oct 15, 2006 (127)
11	AFFY	ss66021531	Nov 30, 2006 (127)
12	AFFY	ss66103342	Nov 30, 2006 (127)
13	ILLUMINA	ss67928976	Nov 30, 2006 (127)
14	ILLUMINA	ss71513391	May 17, 2007 (127)
15	ILLUMINA	ss75423877	Dec 06, 2007 (129)
16	AFFY	ss76073830	Dec 06, 2007 (129)
17	HGSV	ss80766805	Dec 15, 2007 (130)
18	KRIBB_YJKIM	ss81434340	Dec 14, 2007 (130)
19	HGSV	ss83967118	Dec 15, 2007 (130)
20	BCMHGSC_JDW	ss93362101	Mar 24, 2008 (129)
21	HUMANGENOME_JCVI	ss98359549	Feb 06, 2009 (130)
22	1000GENOMES	ss109680741	Jan 24, 2009 (142)
23	1000GENOMES	ss113769512	Jan 25, 2009 (142)
24	ILLUMINA-UK	ss116261191	Feb 14, 2009 (130)
25	ILLUMINA	ss120243261	Dec 01, 2009 (131)
26	ENSEMBL	ss143672370	Dec 01, 2009 (131)
27	GMI	ss156424612	Dec 01, 2009 (131)
28	COMPLETE_GENOMICS	ss161945628	Jul 04, 2010 (132)
29	COMPLETE_GENOMICS	ss163033399	Jul 04, 2010 (132)
30	COMPLETE_GENOMICS	ss165982848	Jul 04, 2010 (132)
31	AFFY	ss172408167	Jul 04, 2010 (132)
32	ILLUMINA	ss174282044	Jul 04, 2010 (132)
33	BUSHMAN	ss201302177	Jul 04, 2010 (132)
34	BCM-HGSC-SUB	ss207352508	Jul 04, 2010 (132)
35	ILLUMINA	ss244257235	Jul 04, 2010 (132)
36	BL	ss253970374	May 09, 2011 (142)
37	GMI	ss278617641	May 04, 2012 (142)
38	GMI	ss285322952	Apr 25, 2013 (142)
39	PJP	ss293579862	May 09, 2011 (142)
40	ILLUMINA	ss482594294	May 04, 2012 (137)
41	ILLUMINA	ss485122969	May 04, 2012 (137)
42	ILLUMINA	ss534716405	Sep 08, 2015 (146)
43	ILLUMINA	ss537447789	Sep 08, 2015 (146)
44	TISHKOFF	ss558941653	Apr 25, 2013 (142)
45	SSMP	ss652854685	Apr 25, 2013 (142)
46	ILLUMINA	ss780032859	Sep 08, 2015 (146)
47	ILLUMINA	ss781813226	Sep 08, 2015 (146)
48	ILLUMINA	ss835513076	Sep 08, 2015 (146)
49	EVA_DECODE	ss1592036117	Apr 01, 2015 (144)
50	EVA_SVP	ss1712827889	Apr 01, 2015 (144)
51	HAMMER_LAB	ss1804238174	Sep 08, 2015 (146)
52	WEILL_CORNELL_DGM	ss1925748277	Feb 12, 2016 (147)
53	USC_VALOUEV	ss2151649208	Dec 20, 2016 (150)
54	HUMAN_LONGEVITY	ss2281087437	Dec 20, 2016 (150)
55	SYSTEMSBIOZJU	ss2626232058	Nov 08, 2017 (151)
56	ILLUMINA	ss2634387011	Nov 08, 2017 (151)
57	GRF	ss2707232917	Nov 08, 2017 (151)
58	BIOINF_KMB_FNS_UNIBA	ss3025526802	Nov 08, 2017 (151)
59	CSHL	ss3346792520	Nov 08, 2017 (151)
60	ILLUMINA	ss3629422293	Oct 12, 2018 (152)
61	ILLUMINA	ss3629422294	Oct 12, 2018 (152)
62	ILLUMINA	ss3632307833	Oct 12, 2018 (152)
63	ILLUMINA	ss3638601479	Oct 12, 2018 (152)
64	ILLUMINA	ss3642467276	Oct 12, 2018 (152)
65	ILLUMINA	ss3643543741	Oct 12, 2018 (152)
66	URBANLAB	ss3648247867	Oct 12, 2018 (152)
67	EVA_DECODE	ss3716409140	Jul 13, 2019 (153)
68	KHV_HUMAN_GENOMES	ss3807665247	Jul 13, 2019 (153)
69	EVA	ss3838316392	Apr 26, 2020 (154)
70	EVA	ss3843756162	Apr 26, 2020 (154)
71	HGDP	ss3847819145	Apr 26, 2020 (154)
72	SGDP_PRJ	ss3863734153	Apr 26, 2020 (154)
73	KRGDB	ss3910464439	Apr 26, 2020 (154)
74	KOGIC	ss3958330374	Apr 26, 2020 (154)
75	GNOMAD	ss4135505132	Apr 26, 2021 (155)
76	GNOMAD	ss4135505133	Apr 26, 2021 (155)
77	TOPMED	ss4690891406	Apr 26, 2021 (155)
78	1000G_HIGH_COVERAGE	ss5267097649	Oct 13, 2022 (156)
79	EVA	ss5315114086	Oct 13, 2022 (156)
80	EVA	ss5363259920	Oct 13, 2022 (156)
81	HUGCELL_USP	ss5464923220	Oct 13, 2022 (156)
82	1000G_HIGH_COVERAGE	ss5552382258	Oct 13, 2022 (156)
83	TOMMO_GENOMICS	ss5713327955	Oct 13, 2022 (156)
84	YY_MCH	ss5807075112	Oct 13, 2022 (156)
85	EVA	ss5855163844	Oct 13, 2022 (156)
86	EVA	ss5882305035	Oct 13, 2022 (156)
87	1000Genomes_30x	NC_000006.12 - 165632	Oct 13, 2022 (156)
88	gnomAD - Genomes Submission ignored due to conflicting rows: Row 214703316 (NC_000006.12:165631:A:G 103891/140110) Row 214703317 (NC_000006.12:165631:A:T 1/140168)	-	Apr 26, 2021 (155)
89	gnomAD - Genomes Submission ignored due to conflicting rows: Row 214703316 (NC_000006.12:165631:A:G 103891/140110) Row 214703317 (NC_000006.12:165631:A:T 1/140168)	-	Apr 26, 2021 (155)
90	HGDP-CEPH-db Supplement 1	NC_000006.10 - 110632	Apr 26, 2020 (154)
91	HapMap	NC_000006.12 - 165632	Apr 26, 2020 (154)
92	KOREAN population from KRGDB	NC_000006.11 - 165632	Apr 26, 2020 (154)
93	Korean Genome Project	NC_000006.12 - 165632	Apr 26, 2020 (154)
94	Qatari	NC_000006.11 - 165632	Apr 26, 2020 (154)
95	SGDP_PRJ	NC_000006.11 - 165632	Apr 26, 2020 (154)
96	Siberian	NC_000006.11 - 165632	Apr 26, 2020 (154)
97	14KJPN	NC_000006.12 - 165632	Oct 13, 2022 (156)
98	TopMed	NC_000006.12 - 165632	Apr 26, 2021 (155)
99	ALFA	NC_000006.12 - 165632	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)
rs17839820	Oct 08, 2004 (123)
rs56668795	Feb 27, 2009 (130)
rs60889712	May 26, 2008 (130)
rs114280573	Aug 21, 2014 (142)
rs117222998	Aug 16, 2010 (132)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
17641833, ss3910464439	NC_000006.11:165631:A:C	NC_000006.12:165631:A:C	(self)
ss80766805, ss83967118	NC_000006.9:110631:A:G	NC_000006.12:165631:A:G	(self)
497037, ss93362101, ss109680741, ss113769512, ss116261191, ss161945628, ss163033399, ss165982848, ss201302177, ss207352508, ss244257235, ss253970374, ss278617641, ss285322952, ss293579862, ss485122969, ss1592036117, ss1712827889, ss3643543741, ss3847819145	NC_000006.10:110631:A:G	NC_000006.12:165631:A:G	(self)
17641833, 7790207, 15751133, 4165562, ss482594294, ss534716405, ss537447789, ss558941653, ss652854685, ss780032859, ss781813226, ss835513076, ss1804238174, ss1925748277, ss2151649208, ss2626232058, ss2634387011, ss2707232917, ss3346792520, ss3629422293, ss3629422294, ss3632307833, ss3638601479, ss3642467276, ss3838316392, ss3863734153, ss3910464439, ss5315114086, ss5363259920	NC_000006.11:165631:A:G	NC_000006.12:165631:A:G	(self)
39908193, 3040324, 14708375, 47165059, 528268964, 1034636808, ss2281087437, ss3025526802, ss3648247867, ss3716409140, ss3807665247, ss3843756162, ss3958330374, ss4135505132, ss4690891406, ss5267097649, ss5464923220, ss5552382258, ss5713327955, ss5807075112, ss5855163844, ss5882305035	NC_000006.12:165631:A:G	NC_000006.12:165631:A:G	(self)
ss59435, ss23658161, ss44683976, ss65719552, ss66021531, ss66103342, ss67928976, ss71513391, ss75423877, ss76073830, ss81434340, ss98359549, ss120243261, ss143672370, ss156424612, ss172408167, ss174282044	NT_007592.15:105631:A:G	NC_000006.12:165631:A:G	(self)
ss6863319, ss10325387, ss11820414, ss12920143	NT_034880.2:105631:A:G	NC_000006.12:165631:A:G	(self)
ss17128888, ss22397352	NT_034880.3:105631:A:G	NC_000006.12:165631:A:G	(self)
ss4135505133	NC_000006.12:165631:A:T	NC_000006.12:165631: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 rs719065

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

rs719065