Name: rs705015
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.

rs705015

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr3:165725895 (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: C>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.058287 (15428/264690, TOPMED)
T=0.053585 (7492/139814, GnomAD)
T=0.02504 (720/28756, ALFA) (+ 18 more)
T=0.06342 (1792/28258, 14KJPN)
T=0.06158 (1032/16760, 8.3KJPN)
T=0.0717 (459/6404, 1000G_30x)
T=0.0709 (355/5008, 1000G)
T=0.0243 (109/4480, Estonian)
T=0.0368 (142/3854, ALSPAC)
T=0.0291 (108/3708, TWINSUK)
T=0.0816 (239/2930, KOREAN)
T=0.0862 (158/1832, Korea1K)
T=0.1132 (177/1564, HapMap)
T=0.034 (34/998, GoNL)
T=0.030 (19/626, Chileans)
T=0.023 (14/600, NorthernSweden)
T=0.069 (15/216, Qatari)
T=0.061 (13/212, Vietnamese)
C=0.46 (37/80, SGDP_PRJ)
C=0.5 (2/4, Siberian)
T=0.5 (2/4, 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	28850	C=0.97497	G=0.00000, T=0.02503
European	Sub	23178	C=0.97631	G=0.00000, T=0.02369
African	Sub	3198	C=0.9593	G=0.0000, T=0.0407
African Others	Sub	106	C=0.943	G=0.000, T=0.057
African American	Sub	3092	C=0.9599	G=0.0000, T=0.0401
Asian	Sub	130	C=0.969	G=0.000, T=0.031
East Asian	Sub	84	C=0.96	G=0.00, T=0.04
Other Asian	Sub	46	C=0.98	G=0.00, T=0.02
Latin American 1	Sub	192	C=0.990	G=0.000, T=0.010
Latin American 2	Sub	722	C=0.999	G=0.000, T=0.001
South Asian	Sub	96	C=0.99	G=0.00, T=0.01
Other	Sub	1334	C=0.9738	G=0.0000, T=0.0262

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	C=0.941713	T=0.058287
gnomAD - Genomes	Global	Study-wide	139814	C=0.946415	T=0.053585
gnomAD - Genomes	European	Sub	75768	C=0.96929	T=0.03071
gnomAD - Genomes	African	Sub	41842	C=0.90082	T=0.09918
gnomAD - Genomes	American	Sub	13606	C=0.96208	T=0.03792
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	C=0.9696	T=0.0304
gnomAD - Genomes	East Asian	Sub	3126	C=0.9063	T=0.0937
gnomAD - Genomes	Other	Sub	2152	C=0.9512	T=0.0488
Allele Frequency Aggregator	Total	Global	28756	C=0.97496	G=0.00000, T=0.02504
Allele Frequency Aggregator	European	Sub	23102	C=0.97632	G=0.00000, T=0.02368
Allele Frequency Aggregator	African	Sub	3198	C=0.9593	G=0.0000, T=0.0407
Allele Frequency Aggregator	Other	Sub	1316	C=0.9734	G=0.0000, T=0.0266
Allele Frequency Aggregator	Latin American 2	Sub	722	C=0.999	G=0.000, T=0.001
Allele Frequency Aggregator	Latin American 1	Sub	192	C=0.990	G=0.000, T=0.010
Allele Frequency Aggregator	Asian	Sub	130	C=0.969	G=0.000, T=0.031
Allele Frequency Aggregator	South Asian	Sub	96	C=0.99	G=0.00, T=0.01
14KJPN	JAPANESE	Study-wide	28258	C=0.93658	T=0.06342
8.3KJPN	JAPANESE	Study-wide	16760	C=0.93842	T=0.06158
1000Genomes_30x	Global	Study-wide	6404	C=0.9283	T=0.0717
1000Genomes_30x	African	Sub	1786	C=0.8875	T=0.1125
1000Genomes_30x	Europe	Sub	1266	C=0.9700	T=0.0300
1000Genomes_30x	South Asian	Sub	1202	C=0.9126	T=0.0874
1000Genomes_30x	East Asian	Sub	1170	C=0.9282	T=0.0718
1000Genomes_30x	American	Sub	980	C=0.968	T=0.032
1000Genomes	Global	Study-wide	5008	C=0.9291	T=0.0709
1000Genomes	African	Sub	1322	C=0.8880	T=0.1120
1000Genomes	East Asian	Sub	1008	C=0.9276	T=0.0724
1000Genomes	Europe	Sub	1006	C=0.9702	T=0.0298
1000Genomes	South Asian	Sub	978	C=0.916	T=0.084
1000Genomes	American	Sub	694	C=0.968	T=0.032
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.9757	T=0.0243
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.9632	T=0.0368
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.9709	T=0.0291
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.9184	T=0.0816
Korean Genome Project	KOREAN	Study-wide	1832	C=0.9138	T=0.0862
HapMap	Global	Study-wide	1564	C=0.8868	T=0.1132
HapMap	African	Sub	692	C=0.848	T=0.152
HapMap	American	Sub	442	C=0.889	T=0.111
HapMap	Asian	Sub	254	C=0.941	T=0.059
HapMap	Europe	Sub	176	C=0.955	T=0.045
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.966	T=0.034
Chileans	Chilean	Study-wide	626	C=0.970	T=0.030
Northern Sweden	ACPOP	Study-wide	600	C=0.977	T=0.023
Qatari	Global	Study-wide	216	C=0.931	T=0.069
A Vietnamese Genetic Variation Database	Global	Study-wide	212	C=0.939	T=0.061
SGDP_PRJ	Global	Study-wide	80	C=0.46	T=0.54
Siberian	Global	Study-wide	4	C=0.5	T=0.5

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 3	NC_000003.12:g.165725895C>G
GRCh38.p14 chr 3	NC_000003.12:g.165725895C>T
GRCh37.p13 chr 3	NC_000003.11:g.165443683C>G
GRCh37.p13 chr 3	NC_000003.11:g.165443683C>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	C=	G	T
GRCh38.p14 chr 3	NC_000003.12:g.165725895=	NC_000003.12:g.165725895C>G	NC_000003.12:g.165725895C>T
GRCh37.p13 chr 3	NC_000003.11:g.165443683=	NC_000003.11:g.165443683C>G	NC_000003.11:g.165443683C>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#.

63 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	KWOK	ss1132211	Oct 04, 2000 (86)
2	KWOK	ss1133451	Oct 04, 2000 (86)
3	KWOK	ss1710139	Oct 18, 2000 (89)
4	KWOK	ss1710299	Oct 18, 2000 (87)
5	TSC-CSHL	ss2346601	Oct 08, 2002 (108)
6	SC_JCM	ss2542926	Nov 08, 2000 (89)
7	PERLEGEN	ss23931671	Sep 20, 2004 (123)
8	ABI	ss44367741	Mar 15, 2006 (126)
9	AFFY	ss66193723	Dec 01, 2006 (127)
10	AFFY	ss76273061	Dec 08, 2007 (130)
11	KRIBB_YJKIM	ss81433515	Dec 14, 2007 (130)
12	1000GENOMES	ss112662379	Jan 25, 2009 (130)
13	AFFY	ss173063280	Jul 04, 2010 (132)
14	1000GENOMES	ss220556673	Jul 14, 2010 (132)
15	1000GENOMES	ss232126983	Jul 14, 2010 (132)
16	GMI	ss277441470	May 04, 2012 (137)
17	TISHKOFF	ss557091311	Apr 25, 2013 (138)
18	SSMP	ss650833936	Apr 25, 2013 (138)
19	EVA-GONL	ss979411700	Aug 21, 2014 (142)
20	JMKIDD_LAB	ss1071021460	Aug 21, 2014 (142)
21	1000GENOMES	ss1307110991	Aug 21, 2014 (142)
22	DDI	ss1429661021	Apr 01, 2015 (144)
23	EVA_DECODE	ss1588905419	Apr 01, 2015 (144)
24	EVA_UK10K_ALSPAC	ss1608718029	Apr 01, 2015 (144)
25	EVA_UK10K_TWINSUK	ss1651712062	Apr 01, 2015 (144)
26	EVA_SVP	ss1712628927	Apr 01, 2015 (144)
27	WEILL_CORNELL_DGM	ss1922634242	Feb 12, 2016 (147)
28	JJLAB	ss2021891891	Sep 14, 2016 (149)
29	USC_VALOUEV	ss2149987950	Dec 20, 2016 (150)
30	HUMAN_LONGEVITY	ss2257818652	Dec 20, 2016 (150)
31	GRF	ss2705407806	Nov 08, 2017 (151)
32	GNOMAD	ss2801864767	Nov 08, 2017 (151)
33	AFFY	ss2985899169	Nov 08, 2017 (151)
34	SWEGEN	ss2993577704	Nov 08, 2017 (151)
35	CSHL	ss3345376880	Nov 08, 2017 (151)
36	ILLUMINA	ss3654045413	Oct 12, 2018 (152)
37	EGCUT_WGS	ss3661521417	Jul 13, 2019 (153)
38	EVA_DECODE	ss3710748288	Jul 13, 2019 (153)
39	ACPOP	ss3730557847	Jul 13, 2019 (153)
40	EVA	ss3760986453	Jul 13, 2019 (153)
41	KHV_HUMAN_GENOMES	ss3804121095	Jul 13, 2019 (153)
42	EVA	ss3828196560	Apr 25, 2020 (154)
43	SGDP_PRJ	ss3857473342	Apr 25, 2020 (154)
44	KRGDB	ss3903536229	Apr 25, 2020 (154)
45	KOGIC	ss3952868053	Apr 25, 2020 (154)
46	TOPMED	ss4591959191	Apr 26, 2021 (155)
47	TOMMO_GENOMICS	ss5162658478	Apr 26, 2021 (155)
48	EVA	ss5237336594	Apr 26, 2021 (155)
49	1000G_HIGH_COVERAGE	ss5256857615	Oct 12, 2022 (156)
50	HUGCELL_USP	ss5455915442	Oct 12, 2022 (156)
51	EVA	ss5507295791	Oct 12, 2022 (156)
52	1000G_HIGH_COVERAGE	ss5536741511	Oct 12, 2022 (156)
53	SANFORD_IMAGENETICS	ss5624537211	Oct 12, 2022 (156)
54	SANFORD_IMAGENETICS	ss5633665878	Oct 12, 2022 (156)
55	TOMMO_GENOMICS	ss5695844723	Oct 12, 2022 (156)
56	YY_MCH	ss5804456041	Oct 12, 2022 (156)
57	EVA	ss5826801169	Oct 12, 2022 (156)
58	EVA	ss5847230193	Oct 12, 2022 (156)
59	EVA	ss5847989267	Oct 12, 2022 (156)
60	EVA	ss5853941796	Oct 12, 2022 (156)
61	EVA	ss5871958818	Oct 12, 2022 (156)
62	EVA	ss5962037471	Oct 12, 2022 (156)
63	EVA	ss5979678749	Oct 12, 2022 (156)
64	1000Genomes	NC_000003.11 - 165443683	Oct 12, 2018 (152)
65	1000Genomes_30x	NC_000003.12 - 165725895	Oct 12, 2022 (156)
66	The Avon Longitudinal Study of Parents and Children	NC_000003.11 - 165443683	Oct 12, 2018 (152)
67	Chileans	NC_000003.11 - 165443683	Apr 25, 2020 (154)
68	Genetic variation in the Estonian population	NC_000003.11 - 165443683	Oct 12, 2018 (152)
69	gnomAD - Genomes	NC_000003.12 - 165725895	Apr 26, 2021 (155)
70	Genome of the Netherlands Release 5	NC_000003.11 - 165443683	Apr 25, 2020 (154)
71	HapMap	NC_000003.12 - 165725895	Apr 25, 2020 (154)
72	KOREAN population from KRGDB	NC_000003.11 - 165443683	Apr 25, 2020 (154)
73	Korean Genome Project	NC_000003.12 - 165725895	Apr 25, 2020 (154)
74	Northern Sweden	NC_000003.11 - 165443683	Jul 13, 2019 (153)
75	Qatari	NC_000003.11 - 165443683	Apr 25, 2020 (154)
76	SGDP_PRJ	NC_000003.11 - 165443683	Apr 25, 2020 (154)
77	Siberian	NC_000003.11 - 165443683	Apr 25, 2020 (154)
78	8.3KJPN	NC_000003.11 - 165443683	Apr 26, 2021 (155)
79	14KJPN	NC_000003.12 - 165725895	Oct 12, 2022 (156)
80	TopMed	NC_000003.12 - 165725895	Apr 26, 2021 (155)
81	UK 10K study - Twins	NC_000003.11 - 165443683	Oct 12, 2018 (152)
82	A Vietnamese Genetic Variation Database	NC_000003.11 - 165443683	Jul 13, 2019 (153)
83	ALFA	NC_000003.12 - 165725895	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)
rs1199783	Nov 09, 2000 (89)
rs56642482	May 24, 2008 (130)
rs57289042	Feb 26, 2009 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
1488116987	NC_000003.12:165725894:C:G	NC_000003.12:165725894:C:G	(self)
ss112662379, ss277441470, ss1588905419, ss1712628927	NC_000003.10:166926376:C:T	NC_000003.12:165725894:C:T	(self)
18410600, 10256518, 301534, 7259665, 4507167, 10713623, 3842712, 4676172, 9490322, 2504304, 20627785, 10256518, 2243009, ss220556673, ss232126983, ss557091311, ss650833936, ss979411700, ss1071021460, ss1307110991, ss1429661021, ss1608718029, ss1651712062, ss1922634242, ss2021891891, ss2149987950, ss2705407806, ss2801864767, ss2985899169, ss2993577704, ss3345376880, ss3654045413, ss3661521417, ss3730557847, ss3760986453, ss3828196560, ss3857473342, ss3903536229, ss5162658478, ss5237336594, ss5507295791, ss5624537211, ss5633665878, ss5826801169, ss5847230193, ss5847989267, ss5962037471, ss5979678749	NC_000003.11:165443682:C:T	NC_000003.12:165725894:C:T	(self)
24267446, 130784734, 2502398, 9246054, 29681827, 429336746, 1488116987, ss2257818652, ss3710748288, ss3804121095, ss3952868053, ss4591959191, ss5256857615, ss5455915442, ss5536741511, ss5695844723, ss5804456041, ss5853941796, ss5871958818	NC_000003.12:165725894:C:T	NC_000003.12:165725894:C:T	(self)
ss1132211, ss1133451, ss1710139, ss1710299, ss2346601, ss2542926, ss23931671, ss44367741, ss66193723, ss76273061, ss81433515, ss173063280	NT_005612.16:71938828:C:T	NC_000003.12:165725894:C: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 rs705015

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

rs705015