Name: rs16958536
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.

rs16958536

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr15:46737708 (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
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.301322 (79757/264690, TOPMED)
G=0.21437 (7254/33838, ALFA)
G=0.26435 (7470/28258, 14KJPN) (+ 18 more)
G=0.26647 (4466/16760, 8.3KJPN)
G=0.3004 (1924/6404, 1000G_30x)
G=0.2963 (1484/5008, 1000G)
G=0.2379 (1066/4480, Estonian)
G=0.2317 (893/3854, ALSPAC)
G=0.2174 (806/3708, TWINSUK)
G=0.2805 (822/2930, KOREAN)
G=0.3222 (609/1890, HapMap)
G=0.2948 (540/1832, Korea1K)
G=0.2734 (310/1134, Daghestan)
G=0.216 (216/998, GoNL)
G=0.314 (248/790, PRJEB37584)
G=0.217 (130/600, NorthernSweden)
A=0.419 (98/234, SGDP_PRJ)
G=0.366 (79/216, Qatari)
G=0.344 (73/212, Vietnamese)
G=0.25 (10/40, GENOME_DK)
A=0.42 (10/24, 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	33838	A=0.78563	C=0.00000, G=0.21437
European	Sub	26236	A=0.81114	C=0.00000, G=0.18886
African	Sub	5004	A=0.6311	C=0.0000, G=0.3689
African Others	Sub	174	A=0.609	C=0.000, G=0.391
African American	Sub	4830	A=0.6319	C=0.0000, G=0.3681
Asian	Sub	80	A=0.90	C=0.00, G=0.10
East Asian	Sub	68	A=0.88	C=0.00, G=0.12
Other Asian	Sub	12	A=1.00	C=0.00, G=0.00
Latin American 1	Sub	112	A=0.893	C=0.000, G=0.107
Latin American 2	Sub	518	A=0.923	C=0.000, G=0.077
South Asian	Sub	98	A=0.95	C=0.00, G=0.05
Other	Sub	1790	A=0.7832	C=0.0000, G=0.2168

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=0.698678	G=0.301322
Allele Frequency Aggregator	Total	Global	33838	A=0.78563	C=0.00000, G=0.21437
Allele Frequency Aggregator	European	Sub	26236	A=0.81114	C=0.00000, G=0.18886
Allele Frequency Aggregator	African	Sub	5004	A=0.6311	C=0.0000, G=0.3689
Allele Frequency Aggregator	Other	Sub	1790	A=0.7832	C=0.0000, G=0.2168
Allele Frequency Aggregator	Latin American 2	Sub	518	A=0.923	C=0.000, G=0.077
Allele Frequency Aggregator	Latin American 1	Sub	112	A=0.893	C=0.000, G=0.107
Allele Frequency Aggregator	South Asian	Sub	98	A=0.95	C=0.00, G=0.05
Allele Frequency Aggregator	Asian	Sub	80	A=0.90	C=0.00, G=0.10
14KJPN	JAPANESE	Study-wide	28258	A=0.73565	G=0.26435
8.3KJPN	JAPANESE	Study-wide	16760	A=0.73353	G=0.26647
1000Genomes_30x	Global	Study-wide	6404	A=0.6996	G=0.3004
1000Genomes_30x	African	Sub	1786	A=0.5101	G=0.4899
1000Genomes_30x	Europe	Sub	1266	A=0.7528	G=0.2472
1000Genomes_30x	South Asian	Sub	1202	A=0.8910	G=0.1090
1000Genomes_30x	East Asian	Sub	1170	A=0.6940	G=0.3060
1000Genomes_30x	American	Sub	980	A=0.748	G=0.252
1000Genomes	Global	Study-wide	5008	A=0.7037	G=0.2963
1000Genomes	African	Sub	1322	A=0.5091	G=0.4909
1000Genomes	East Asian	Sub	1008	A=0.6915	G=0.3085
1000Genomes	Europe	Sub	1006	A=0.7495	G=0.2505
1000Genomes	South Asian	Sub	978	A=0.896	G=0.104
1000Genomes	American	Sub	694	A=0.755	G=0.245
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.7621	G=0.2379
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.7683	G=0.2317
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.7826	G=0.2174
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.7195	G=0.2805
HapMap	Global	Study-wide	1890	A=0.6778	G=0.3222
HapMap	American	Sub	768	A=0.763	G=0.237
HapMap	African	Sub	692	A=0.542	G=0.458
HapMap	Asian	Sub	254	A=0.740	G=0.260
HapMap	Europe	Sub	176	A=0.750	G=0.250
Korean Genome Project	KOREAN	Study-wide	1832	A=0.7052	G=0.2948
Genome-wide autozygosity in Daghestan	Global	Study-wide	1134	A=0.7266	G=0.2734
Genome-wide autozygosity in Daghestan	Daghestan	Sub	626	A=0.684	G=0.316
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	A=0.750	G=0.250
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	A=0.713	G=0.287
Genome-wide autozygosity in Daghestan	Europe	Sub	108	A=0.759	G=0.241
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	A=0.93	G=0.07
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	A=0.78	G=0.22
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.784	G=0.216
CNV burdens in cranial meningiomas	Global	Study-wide	790	A=0.686	G=0.314
CNV burdens in cranial meningiomas	CRM	Sub	790	A=0.686	G=0.314
Northern Sweden	ACPOP	Study-wide	600	A=0.783	G=0.217
SGDP_PRJ	Global	Study-wide	234	A=0.419	G=0.581
Qatari	Global	Study-wide	216	A=0.634	G=0.366
A Vietnamese Genetic Variation Database	Global	Study-wide	212	A=0.656	G=0.344
The Danish reference pan genome	Danish	Study-wide	40	A=0.75	G=0.25
Siberian	Global	Study-wide	24	A=0.42	G=0.58

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 15	NC_000015.10:g.46737708A>C
GRCh38.p14 chr 15	NC_000015.10:g.46737708A>G
GRCh37.p13 chr 15	NC_000015.9:g.47029906A>C
GRCh37.p13 chr 15	NC_000015.9:g.47029906A>G
LOC729316 pseudogene	NG_006249.3:g.9572T>G
LOC729316 pseudogene	NG_006249.3:g.9572T>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	A=	C	G
GRCh38.p14 chr 15	NC_000015.10:g.46737708=	NC_000015.10:g.46737708A>C	NC_000015.10:g.46737708A>G
GRCh37.p13 chr 15	NC_000015.9:g.47029906=	NC_000015.9:g.47029906A>C	NC_000015.9:g.47029906A>G
LOC729316 pseudogene	NG_006249.3:g.9572=	NG_006249.3:g.9572T>G	NG_006249.3:g.9572T>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#.

80 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	PERLEGEN	ss23412620	Sep 20, 2004 (123)
2	ILLUMINA	ss75013798	Dec 06, 2007 (129)
3	HGSV	ss77132923	Dec 06, 2007 (129)
4	BGI	ss103235161	Dec 01, 2009 (131)
5	1000GENOMES	ss108786791	Jan 23, 2009 (130)
6	1000GENOMES	ss114122670	Jan 25, 2009 (130)
7	ILLUMINA-UK	ss118212584	Feb 14, 2009 (130)
8	KRIBB_YJKIM	ss119857423	Dec 01, 2009 (131)
9	GMI	ss156492184	Dec 01, 2009 (131)
10	ILLUMINA	ss172679523	Jul 04, 2010 (132)
11	BUSHMAN	ss200799094	Jul 04, 2010 (132)
12	1000GENOMES	ss226874185	Jul 14, 2010 (132)
13	1000GENOMES	ss236764883	Jul 15, 2010 (132)
14	1000GENOMES	ss243153646	Jul 15, 2010 (132)
15	GMI	ss282239926	May 04, 2012 (137)
16	PJP	ss291830936	May 09, 2011 (134)
17	ILLUMINA	ss480004307	May 04, 2012 (137)
18	ILLUMINA	ss483397464	May 04, 2012 (137)
19	ILLUMINA	ss533463817	Sep 08, 2015 (146)
20	SSMP	ss660178816	Apr 25, 2013 (138)
21	ILLUMINA	ss779692555	Sep 08, 2015 (146)
22	ILLUMINA	ss781122792	Sep 08, 2015 (146)
23	ILLUMINA	ss835166489	Sep 08, 2015 (146)
24	EVA-GONL	ss991749685	Aug 21, 2014 (142)
25	JMKIDD_LAB	ss1080096575	Aug 21, 2014 (142)
26	1000GENOMES	ss1353320916	Aug 21, 2014 (142)
27	HAMMER_LAB	ss1397696052	Sep 08, 2015 (146)
28	DDI	ss1427614563	Apr 01, 2015 (144)
29	EVA_GENOME_DK	ss1577593102	Apr 01, 2015 (144)
30	EVA_UK10K_ALSPAC	ss1632920314	Apr 01, 2015 (144)
31	EVA_UK10K_TWINSUK	ss1675914347	Apr 01, 2015 (144)
32	EVA_DECODE	ss1695765178	Apr 01, 2015 (144)
33	EVA_SVP	ss1713486967	Apr 01, 2015 (144)
34	HAMMER_LAB	ss1808187618	Sep 08, 2015 (146)
35	WEILL_CORNELL_DGM	ss1935154174	Feb 12, 2016 (147)
36	GENOMED	ss1968097128	Jul 19, 2016 (147)
37	JJLAB	ss2028355939	Sep 14, 2016 (149)
38	USC_VALOUEV	ss2156756655	Dec 20, 2016 (150)
39	HUMAN_LONGEVITY	ss2206478731	Dec 20, 2016 (150)
40	SYSTEMSBIOZJU	ss2628671657	Nov 08, 2017 (151)
41	ILLUMINA	ss2633224413	Nov 08, 2017 (151)
42	ILLUMINA	ss2635057686	Nov 08, 2017 (151)
43	GRF	ss2701224021	Nov 08, 2017 (151)
44	GNOMAD	ss2934491690	Nov 08, 2017 (151)
45	SWEGEN	ss3013224569	Nov 08, 2017 (151)
46	BIOINF_KMB_FNS_UNIBA	ss3028001138	Nov 08, 2017 (151)
47	CSHL	ss3351098790	Nov 08, 2017 (151)
48	ILLUMINA	ss3627352911	Oct 12, 2018 (152)
49	ILLUMINA	ss3631217740	Oct 12, 2018 (152)
50	ILLUMINA	ss3638083522	Oct 12, 2018 (152)
51	ILLUMINA	ss3641059883	Oct 12, 2018 (152)
52	ILLUMINA	ss3641355236	Oct 12, 2018 (152)
53	ILLUMINA	ss3641911241	Oct 12, 2018 (152)
54	ILLUMINA	ss3643067859	Oct 12, 2018 (152)
55	EGCUT_WGS	ss3680365269	Jul 13, 2019 (153)
56	EVA_DECODE	ss3697823428	Jul 13, 2019 (153)
57	ACPOP	ss3740892268	Jul 13, 2019 (153)
58	EVA	ss3753039385	Jul 13, 2019 (153)
59	KHV_HUMAN_GENOMES	ss3818358517	Jul 13, 2019 (153)
60	EVA	ss3834216582	Apr 27, 2020 (154)
61	SGDP_PRJ	ss3882843149	Apr 27, 2020 (154)
62	KRGDB	ss3931998180	Apr 27, 2020 (154)
63	KOGIC	ss3976069428	Apr 27, 2020 (154)
64	EVA	ss3984700718	Apr 26, 2021 (155)
65	TOPMED	ss4990098976	Apr 26, 2021 (155)
66	TOMMO_GENOMICS	ss5216027560	Apr 26, 2021 (155)
67	1000G_HIGH_COVERAGE	ss5298318268	Oct 16, 2022 (156)
68	EVA	ss5315781214	Oct 16, 2022 (156)
69	EVA	ss5419008403	Oct 16, 2022 (156)
70	HUGCELL_USP	ss5492059599	Oct 16, 2022 (156)
71	EVA	ss5511416910	Oct 16, 2022 (156)
72	1000G_HIGH_COVERAGE	ss5599657601	Oct 16, 2022 (156)
73	SANFORD_IMAGENETICS	ss5624359536	Oct 16, 2022 (156)
74	SANFORD_IMAGENETICS	ss5657439675	Oct 16, 2022 (156)
75	TOMMO_GENOMICS	ss5769786503	Oct 16, 2022 (156)
76	YY_MCH	ss5815301295	Oct 16, 2022 (156)
77	EVA	ss5828154478	Oct 16, 2022 (156)
78	EVA	ss5851277404	Oct 16, 2022 (156)
79	EVA	ss5875732160	Oct 16, 2022 (156)
80	EVA	ss5948837023	Oct 16, 2022 (156)
81	1000Genomes	NC_000015.9 - 47029906	Oct 12, 2018 (152)
82	1000Genomes_30x	NC_000015.10 - 46737708	Oct 16, 2022 (156)
83	The Avon Longitudinal Study of Parents and Children	NC_000015.9 - 47029906	Oct 12, 2018 (152)
84	Genome-wide autozygosity in Daghestan	NC_000015.8 - 44817198	Apr 27, 2020 (154)
85	Genetic variation in the Estonian population	NC_000015.9 - 47029906	Oct 12, 2018 (152)
86	The Danish reference pan genome	NC_000015.9 - 47029906	Apr 27, 2020 (154)
87	gnomAD - Genomes Submission ignored due to conflicting rows: Row 468010985 (NC_000015.10:46737707:A:C 7/140050) Row 468010986 (NC_000015.10:46737707:A:G 41416/139980)	-	Apr 26, 2021 (155)
88	gnomAD - Genomes Submission ignored due to conflicting rows: Row 468010985 (NC_000015.10:46737707:A:C 7/140050) Row 468010986 (NC_000015.10:46737707:A:G 41416/139980)	-	Apr 26, 2021 (155)
89	Genome of the Netherlands Release 5	NC_000015.9 - 47029906	Apr 27, 2020 (154)
90	HapMap	NC_000015.10 - 46737708	Apr 27, 2020 (154)
91	KOREAN population from KRGDB	NC_000015.9 - 47029906	Apr 27, 2020 (154)
92	Korean Genome Project	NC_000015.10 - 46737708	Apr 27, 2020 (154)
93	Northern Sweden	NC_000015.9 - 47029906	Jul 13, 2019 (153)
94	CNV burdens in cranial meningiomas	NC_000015.9 - 47029906	Apr 26, 2021 (155)
95	Qatari	NC_000015.9 - 47029906	Apr 27, 2020 (154)
96	SGDP_PRJ	NC_000015.9 - 47029906	Apr 27, 2020 (154)
97	Siberian	NC_000015.9 - 47029906	Apr 27, 2020 (154)
98	8.3KJPN	NC_000015.9 - 47029906	Apr 26, 2021 (155)
99	14KJPN	NC_000015.10 - 46737708	Oct 16, 2022 (156)
100	TopMed	NC_000015.10 - 46737708	Apr 26, 2021 (155)
101	UK 10K study - Twins	NC_000015.9 - 47029906	Oct 12, 2018 (152)
102	A Vietnamese Genetic Variation Database	NC_000015.9 - 47029906	Jul 13, 2019 (153)
103	ALFA	NC_000015.10 - 46737708	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
ss2934491690	NC_000015.9:47029905:A:C	NC_000015.10:46737707:A:C	(self)
481950441, ss2206478731	NC_000015.10:46737707:A:C	NC_000015.10:46737707:A:C	(self)
166231, ss77132923, ss108786791, ss114122670, ss118212584, ss200799094, ss282239926, ss291830936, ss483397464, ss1397696052, ss1695765178, ss1713486967, ss2635057686, ss3643067859	NC_000015.8:44817197:A:G	NC_000015.10:46737707:A:G	(self)
66387711, 36851299, 26103517, 3841333, 16458984, 39175574, 14177133, 250240, 17196104, 34860129, 9273009, 73996867, 36851299, 8197431, ss226874185, ss236764883, ss243153646, ss480004307, ss533463817, ss660178816, ss779692555, ss781122792, ss835166489, ss991749685, ss1080096575, ss1353320916, ss1427614563, ss1577593102, ss1632920314, ss1675914347, ss1808187618, ss1935154174, ss1968097128, ss2028355939, ss2156756655, ss2628671657, ss2633224413, ss2701224021, ss2934491690, ss3013224569, ss3351098790, ss3627352911, ss3631217740, ss3638083522, ss3641059883, ss3641355236, ss3641911241, ss3680365269, ss3740892268, ss3753039385, ss3834216582, ss3882843149, ss3931998180, ss3984700718, ss5216027560, ss5315781214, ss5419008403, ss5511416910, ss5624359536, ss5657439675, ss5828154478, ss5948837023	NC_000015.9:47029905:A:G	NC_000015.10:46737707:A:G	(self)
87183536, 1255864, 32447429, 103623607, 205644636, 481950441, ss2206478731, ss3028001138, ss3697823428, ss3818358517, ss3976069428, ss4990098976, ss5298318268, ss5492059599, ss5599657601, ss5769786503, ss5815301295, ss5851277404, ss5875732160	NC_000015.10:46737707:A:G	NC_000015.10:46737707:A:G	(self)
ss23412620, ss75013798, ss103235161, ss119857423, ss156492184, ss172679523	NT_010194.17:17820462:A:G	NC_000015.10:46737707:A:G	(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 rs16958536

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

rs16958536