Name: rs8185016
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.

rs8185016

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr5:46121704 (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 / T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.493732 (130686/264690, TOPMED)
C=0.495392 (69120/139526, GnomAD)
C=0.40565 (11462/28256, 14KJPN) (+ 14 more)
C=0.40591 (6803/16760, 8.3KJPN)
C=0.25358 (2585/10194, ALFA)
T=0.4866 (3116/6404, 1000G_30x)
T=0.4890 (2449/5008, 1000G)
C=0.4406 (1698/3854, ALSPAC)
C=0.4364 (1618/3708, TWINSUK)
C=0.4410 (1292/2930, KOREAN)
C=0.432 (431/998, GoNL)
C=0.333 (200/600, NorthernSweden)
T=0.319 (125/392, SGDP_PRJ)
T=0.491 (106/216, Qatari)
C=0.468 (101/216, Vietnamese)
C=0.35 (14/40, GENOME_DK)
T=0.43 (12/28, 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	10194	T=0.74642	C=0.25358, G=0.00000
European	Sub	9064	T=0.7348	C=0.2652, G=0.0000
African	Sub	450	T=0.816	C=0.184, G=0.000
African Others	Sub	12	T=0.58	C=0.42, G=0.00
African American	Sub	438	T=0.822	C=0.178, G=0.000
Asian	Sub	36	T=0.92	C=0.08, G=0.00
East Asian	Sub	28	T=0.96	C=0.04, G=0.00
Other Asian	Sub	8	T=0.8	C=0.2, G=0.0
Latin American 1	Sub	34	T=1.00	C=0.00, G=0.00
Latin American 2	Sub	230	T=1.000	C=0.000, G=0.000
South Asian	Sub	34	T=0.91	C=0.09, G=0.00
Other	Sub	346	T=0.734	C=0.266, G=0.000

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=0.493732	C=0.506268
gnomAD - Genomes	Global	Study-wide	139526	T=0.504608	C=0.495392
gnomAD - Genomes	European	Sub	75610	T=0.58840	C=0.41160
gnomAD - Genomes	African	Sub	41852	T=0.33255	C=0.66745
gnomAD - Genomes	American	Sub	13496	T=0.58395	C=0.41605
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	T=0.4449	C=0.5551
gnomAD - Genomes	East Asian	Sub	3100	T=0.4848	C=0.5152
gnomAD - Genomes	Other	Sub	2148	T=0.5298	C=0.4702
14KJPN	JAPANESE	Study-wide	28256	T=0.59435	C=0.40565
8.3KJPN	JAPANESE	Study-wide	16760	T=0.59409	C=0.40591
Allele Frequency Aggregator	Total	Global	10194	T=0.74642	C=0.25358, G=0.00000
Allele Frequency Aggregator	European	Sub	9064	T=0.7348	C=0.2652, G=0.0000
Allele Frequency Aggregator	African	Sub	450	T=0.816	C=0.184, G=0.000
Allele Frequency Aggregator	Other	Sub	346	T=0.734	C=0.266, G=0.000
Allele Frequency Aggregator	Latin American 2	Sub	230	T=1.000	C=0.000, G=0.000
Allele Frequency Aggregator	Asian	Sub	36	T=0.92	C=0.08, G=0.00
Allele Frequency Aggregator	Latin American 1	Sub	34	T=1.00	C=0.00, G=0.00
Allele Frequency Aggregator	South Asian	Sub	34	T=0.91	C=0.09, G=0.00
1000Genomes_30x	Global	Study-wide	6404	T=0.4866	C=0.5134
1000Genomes_30x	African	Sub	1786	T=0.3068	C=0.6932
1000Genomes_30x	Europe	Sub	1266	T=0.5750	C=0.4250
1000Genomes_30x	South Asian	Sub	1202	T=0.5408	C=0.4592
1000Genomes_30x	East Asian	Sub	1170	T=0.5154	C=0.4846
1000Genomes_30x	American	Sub	980	T=0.599	C=0.401
1000Genomes	Global	Study-wide	5008	T=0.4890	C=0.5110
1000Genomes	African	Sub	1322	T=0.3086	C=0.6914
1000Genomes	East Asian	Sub	1008	T=0.5218	C=0.4782
1000Genomes	Europe	Sub	1006	T=0.5785	C=0.4215
1000Genomes	South Asian	Sub	978	T=0.526	C=0.474
1000Genomes	American	Sub	694	T=0.604	C=0.396
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.5594	C=0.4406
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.5636	C=0.4364
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.5590	C=0.4410, G=0.0000
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.568	C=0.432
Northern Sweden	ACPOP	Study-wide	600	T=0.667	C=0.333
SGDP_PRJ	Global	Study-wide	392	T=0.319	C=0.681
Qatari	Global	Study-wide	216	T=0.491	C=0.509
A Vietnamese Genetic Variation Database	Global	Study-wide	216	T=0.532	C=0.468
The Danish reference pan genome	Danish	Study-wide	40	T=0.65	C=0.35
Siberian	Global	Study-wide	28	T=0.43	C=0.57

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 5	NC_000005.10:g.46121704T>C
GRCh38.p14 chr 5	NC_000005.10:g.46121704T>G
GRCh37.p13 chr 5	NC_000005.9:g.46121806T>C
GRCh37.p13 chr 5	NC_000005.9:g.46121806T>G

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	G
GRCh38.p14 chr 5	NC_000005.10:g.46121704=	NC_000005.10:g.46121704T>C	NC_000005.10:g.46121704T>G
GRCh37.p13 chr 5	NC_000005.9:g.46121806=	NC_000005.9:g.46121806T>C	NC_000005.9:g.46121806T>G

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#.

65 SubSNP, 17 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss12576752	Aug 27, 2003 (117)
2	SC_JCM	ss13524262	Dec 05, 2003 (126)
3	SSAHASNP	ss22331027	Apr 05, 2004 (126)
4	WI_SSAHASNP	ss23023500	Apr 05, 2004 (126)
5	ABI	ss42446947	Mar 10, 2006 (126)
6	BCMHGSC_JDW	ss93083464	Mar 24, 2008 (129)
7	HUMANGENOME_JCVI	ss98616126	Feb 06, 2009 (130)
8	BGI	ss104192049	Feb 20, 2009 (131)
9	1000GENOMES	ss109011305	Jan 23, 2009 (130)
10	1000GENOMES	ss111784966	Jan 25, 2009 (130)
11	ILLUMINA-UK	ss116597168	Dec 01, 2009 (131)
12	ENSEMBL	ss143102918	Dec 01, 2009 (131)
13	GMI	ss155377088	Dec 01, 2009 (131)
14	COMPLETE_GENOMICS	ss164855267	Jul 04, 2010 (132)
15	COMPLETE_GENOMICS	ss166495308	Jul 04, 2010 (132)
16	BUSHMAN	ss200199913	Jul 04, 2010 (132)
17	BCM-HGSC-SUB	ss206838298	Jul 04, 2010 (132)
18	1000GENOMES	ss221660007	Jul 14, 2010 (132)
19	1000GENOMES	ss232930697	Jul 14, 2010 (132)
20	1000GENOMES	ss240107342	Jul 15, 2010 (132)
21	BL	ss253418555	May 09, 2011 (134)
22	GMI	ss278271652	May 04, 2012 (137)
23	GMI	ss285168218	Apr 25, 2013 (138)
24	PJP	ss293348981	May 09, 2011 (134)
25	TISHKOFF	ss558369518	Apr 25, 2013 (138)
26	SSMP	ss652229401	Apr 25, 2013 (138)
27	EVA-GONL	ss981522811	Aug 21, 2014 (142)
28	JMKIDD_LAB	ss1072599716	Aug 21, 2014 (142)
29	1000GENOMES	ss1314939508	Aug 21, 2014 (142)
30	DDI	ss1430329113	Apr 01, 2015 (144)
31	EVA_GENOME_DK	ss1581121444	Apr 01, 2015 (144)
32	EVA_UK10K_ALSPAC	ss1612809150	Apr 01, 2015 (144)
33	EVA_UK10K_TWINSUK	ss1655803183	Apr 01, 2015 (144)
34	HAMMER_LAB	ss1803456605	Sep 08, 2015 (146)
35	WEILL_CORNELL_DGM	ss1924782501	Feb 12, 2016 (147)
36	JJLAB	ss2022994309	Sep 14, 2016 (149)
37	USC_VALOUEV	ss2151146663	Dec 20, 2016 (150)
38	SYSTEMSBIOZJU	ss2625994642	Nov 08, 2017 (151)
39	GRF	ss2706685500	Nov 08, 2017 (151)
40	GNOMAD	ss2824115194	Nov 08, 2017 (151)
41	SWEGEN	ss2996858247	Nov 08, 2017 (151)
42	BIOINF_KMB_FNS_UNIBA	ss3025281141	Nov 08, 2017 (151)
43	CSHL	ss3346367053	Nov 08, 2017 (151)
44	URBANLAB	ss3648047179	Oct 12, 2018 (152)
45	EVA_DECODE	ss3714606929	Jul 13, 2019 (153)
46	ACPOP	ss3732320506	Jul 13, 2019 (153)
47	EVA	ss3763383344	Jul 13, 2019 (153)
48	KHV_HUMAN_GENOMES	ss3806556635	Jul 13, 2019 (153)
49	EVA	ss3829224667	Apr 26, 2020 (154)
50	SGDP_PRJ	ss3861768007	Apr 26, 2020 (154)
51	KRGDB	ss3908266758	Apr 26, 2020 (154)
52	TOPMED	ss4658552834	Apr 26, 2021 (155)
53	TOMMO_GENOMICS	ss5171549918	Apr 26, 2021 (155)
54	1000G_HIGH_COVERAGE	ss5263798693	Oct 13, 2022 (156)
55	EVA	ss5357305487	Oct 13, 2022 (156)
56	HUGCELL_USP	ss5462034658	Oct 13, 2022 (156)
57	EVA	ss5508006823	Oct 13, 2022 (156)
58	1000G_HIGH_COVERAGE	ss5547344579	Oct 13, 2022 (156)
59	SANFORD_IMAGENETICS	ss5637721939	Oct 13, 2022 (156)
60	TOMMO_GENOMICS	ss5707547443	Oct 13, 2022 (156)
61	YY_MCH	ss5806248558	Oct 13, 2022 (156)
62	EVA	ss5834875100	Oct 13, 2022 (156)
63	EVA	ss5854797201	Oct 13, 2022 (156)
64	EVA	ss5894027045	Oct 13, 2022 (156)
65	EVA	ss5966146613	Oct 13, 2022 (156)
66	1000Genomes	NC_000005.9 - 46121806	Oct 12, 2018 (152)
67	1000Genomes_30x	NC_000005.10 - 46121704	Oct 13, 2022 (156)
68	The Avon Longitudinal Study of Parents and Children	NC_000005.9 - 46121806	Oct 12, 2018 (152)
69	The Danish reference pan genome	NC_000005.9 - 46121806	Apr 26, 2020 (154)
70	gnomAD - Genomes	NC_000005.10 - 46121704	Apr 26, 2021 (155)
71	Genome of the Netherlands Release 5	NC_000005.9 - 46121806	Apr 26, 2020 (154)
72	KOREAN population from KRGDB	NC_000005.9 - 46121806	Apr 26, 2020 (154)
73	Northern Sweden	NC_000005.9 - 46121806	Jul 13, 2019 (153)
74	Qatari	NC_000005.9 - 46121806	Apr 26, 2020 (154)
75	SGDP_PRJ	NC_000005.9 - 46121806	Apr 26, 2020 (154)
76	Siberian	NC_000005.9 - 46121806	Apr 26, 2020 (154)
77	8.3KJPN	NC_000005.9 - 46121806	Apr 26, 2021 (155)
78	14KJPN	NC_000005.10 - 46121704	Oct 13, 2022 (156)
79	TopMed	NC_000005.10 - 46121704	Apr 26, 2021 (155)
80	UK 10K study - Twins	NC_000005.9 - 46121806	Oct 12, 2018 (152)
81	A Vietnamese Genetic Variation Database	NC_000005.9 - 46121806	Jul 13, 2019 (153)
82	ALFA	NC_000005.10 - 46121704	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)
rs9716378	Mar 10, 2006 (126)
rs12697501	Mar 10, 2006 (126)
rs74201718	Dec 02, 2009 (131)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss93083464, ss109011305, ss111784966, ss116597168, ss164855267, ss166495308, ss200199913, ss206838298, ss253418555, ss278271652, ss285168218, ss293348981	NC_000005.8:46157562:T:C	NC_000005.10:46121703:T:C	(self)
26533719, 14753394, 7286383, 6556896, 15444152, 5605371, 6824431, 13784987, 3663017, 29519225, 14753394, 3278231, ss221660007, ss232930697, ss240107342, ss558369518, ss652229401, ss981522811, ss1072599716, ss1314939508, ss1430329113, ss1581121444, ss1612809150, ss1655803183, ss1803456605, ss1924782501, ss2022994309, ss2151146663, ss2625994642, ss2706685500, ss2824115194, ss2996858247, ss3346367053, ss3732320506, ss3763383344, ss3829224667, ss3861768007, ss3908266758, ss5171549918, ss5357305487, ss5508006823, ss5637721939, ss5834875100, ss5966146613	NC_000005.9:46121805:T:C	NC_000005.10:46121703:T:C	(self)
34870514, 187461258, 41384547, 495930391, 4833965251, ss3025281141, ss3648047179, ss3714606929, ss3806556635, ss4658552834, ss5263798693, ss5462034658, ss5547344579, ss5707547443, ss5806248558, ss5854797201, ss5894027045	NC_000005.10:46121703:T:C	NC_000005.10:46121703:T:C	(self)
ss12576752	NT_006576.13:28548551:T:C	NC_000005.10:46121703:T:C	(self)
ss13524262, ss22331027, ss23023500	NT_006576.14:28573911:T:C	NC_000005.10:46121703:T:C	(self)
ss42446947, ss98616126, ss104192049, ss143102918, ss155377088	NT_006576.16:46111805:T:C	NC_000005.10:46121703:T:C	(self)
15444152, ss3908266758	NC_000005.9:46121805:T:G	NC_000005.10:46121703:T:G	(self)
4833965251	NC_000005.10:46121703:T:G	NC_000005.10:46121703:T: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 rs8185016

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

rs8185016