Name: rs4790911
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.

rs4790911

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:66414797 (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>A / T>C / T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.153062 (40514/264690, TOPMED)
T=0.098223 (19708/200646, ALFA)
T=0.148487 (20792/140026, GnomAD) (+ 19 more)
T=0.07778 (2198/28258, 14KJPN)
T=0.07637 (1280/16760, 8.3KJPN)
T=0.1446 (926/6404, 1000G_30x)
T=0.1390 (696/5008, 1000G)
T=0.0875 (392/4480, Estonian)
T=0.0906 (349/3854, ALSPAC)
T=0.0909 (337/3708, TWINSUK)
T=0.0509 (149/2930, KOREAN)
T=0.1012 (211/2084, HGDP_Stanford)
T=0.1529 (289/1890, HapMap)
T=0.0584 (107/1832, Korea1K)
T=0.074 (74/998, GoNL)
T=0.107 (64/600, NorthernSweden)
T=0.096 (53/550, SGDP_PRJ)
T=0.120 (26/216, Qatari)
T=0.038 (8/210, Vietnamese)
T=0.10 (6/58, Ancient Sardinia)
T=0.12 (7/56, Siberian)
T=0.15 (6/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: PRKCA : Intron Variant
PRKCA-AS1 : Intron Variant
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	200646	T=0.098223	C=0.901777
European	Sub	173394	T=0.089369	C=0.910631
African	Sub	7092	T=0.2788	C=0.7212
African Others	Sub	264	T=0.314	C=0.686
African American	Sub	6828	T=0.2774	C=0.7226
Asian	Sub	702	T=0.037	C=0.963
East Asian	Sub	556	T=0.034	C=0.966
Other Asian	Sub	146	T=0.048	C=0.952
Latin American 1	Sub	844	T=0.102	C=0.898
Latin American 2	Sub	6906	T=0.1794	C=0.8206
South Asian	Sub	5040	T=0.0395	C=0.9605
Other	Sub	6668	T=0.1027	C=0.8973

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=0.153062	C=0.846938
Allele Frequency Aggregator	Total	Global	200646	T=0.098223	C=0.901777
Allele Frequency Aggregator	European	Sub	173394	T=0.089369	C=0.910631
Allele Frequency Aggregator	African	Sub	7092	T=0.2788	C=0.7212
Allele Frequency Aggregator	Latin American 2	Sub	6906	T=0.1794	C=0.8206
Allele Frequency Aggregator	Other	Sub	6668	T=0.1027	C=0.8973
Allele Frequency Aggregator	South Asian	Sub	5040	T=0.0395	C=0.9605
Allele Frequency Aggregator	Latin American 1	Sub	844	T=0.102	C=0.898
Allele Frequency Aggregator	Asian	Sub	702	T=0.037	C=0.963
gnomAD - Genomes	Global	Study-wide	140026	T=0.148487	C=0.851513
gnomAD - Genomes	European	Sub	75888	T=0.09144	C=0.90856
gnomAD - Genomes	African	Sub	41902	T=0.27397	C=0.72603
gnomAD - Genomes	American	Sub	13632	T=0.12280	C=0.87720
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	T=0.0804	C=0.9196
gnomAD - Genomes	East Asian	Sub	3130	T=0.0489	C=0.9511
gnomAD - Genomes	Other	Sub	2152	T=0.1296	C=0.8704
14KJPN	JAPANESE	Study-wide	28258	T=0.07778	C=0.92222
8.3KJPN	JAPANESE	Study-wide	16760	T=0.07637	C=0.92363
1000Genomes_30x	Global	Study-wide	6404	T=0.1446	C=0.8554
1000Genomes_30x	African	Sub	1786	T=0.3135	C=0.6865
1000Genomes_30x	Europe	Sub	1266	T=0.0853	C=0.9147
1000Genomes_30x	South Asian	Sub	1202	T=0.0349	C=0.9651
1000Genomes_30x	East Asian	Sub	1170	T=0.0444	C=0.9556
1000Genomes_30x	American	Sub	980	T=0.167	C=0.833
1000Genomes	Global	Study-wide	5008	T=0.1390	C=0.8610
1000Genomes	African	Sub	1322	T=0.3169	C=0.6831
1000Genomes	East Asian	Sub	1008	T=0.0397	C=0.9603
1000Genomes	Europe	Sub	1006	T=0.0885	C=0.9115
1000Genomes	South Asian	Sub	978	T=0.034	C=0.966
1000Genomes	American	Sub	694	T=0.166	C=0.834
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.0875	C=0.9125
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.0906	C=0.9094
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.0909	C=0.9091
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.0509	A=0.0000, C=0.9491, G=0.0000
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	T=0.1012	C=0.8988
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	T=0.066	C=0.934
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	T=0.041	C=0.959
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	T=0.111	C=0.889
HGDP-CEPH-db Supplement 1	Europe	Sub	320	T=0.078	C=0.922
HGDP-CEPH-db Supplement 1	Africa	Sub	242	T=0.273	C=0.727
HGDP-CEPH-db Supplement 1	America	Sub	216	T=0.153	C=0.847
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	T=0.00	C=1.00
HapMap	Global	Study-wide	1890	T=0.1529	C=0.8471
HapMap	American	Sub	770	T=0.099	C=0.901
HapMap	African	Sub	690	T=0.275	C=0.725
HapMap	Asian	Sub	254	T=0.043	C=0.957
HapMap	Europe	Sub	176	T=0.068	C=0.932
Korean Genome Project	KOREAN	Study-wide	1832	T=0.0584	C=0.9416
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.074	C=0.926
Northern Sweden	ACPOP	Study-wide	600	T=0.107	C=0.893
SGDP_PRJ	Global	Study-wide	550	T=0.096	C=0.904
Qatari	Global	Study-wide	216	T=0.120	C=0.880
A Vietnamese Genetic Variation Database	Global	Study-wide	210	T=0.038	C=0.962
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	58	T=0.10	C=0.90
Siberian	Global	Study-wide	56	T=0.12	C=0.88
The Danish reference pan genome	Danish	Study-wide	40	T=0.15	C=0.85

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 17	NC_000017.11:g.66414797T>A
GRCh38.p14 chr 17	NC_000017.11:g.66414797T>C
GRCh38.p14 chr 17	NC_000017.11:g.66414797T>G
GRCh37.p13 chr 17	NC_000017.10:g.64410915T>A
GRCh37.p13 chr 17	NC_000017.10:g.64410915T>C
GRCh37.p13 chr 17	NC_000017.10:g.64410915T>G
PRKCA RefSeqGene	NG_012206.1:g.116990T>A
PRKCA RefSeqGene	NG_012206.1:g.116990T>C
PRKCA RefSeqGene	NG_012206.1:g.116990T>G

Gene: PRKCA, protein kinase C alpha (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PRKCA transcript	NM_002737.3:c.206-81404T>A	N/A	Intron Variant
PRKCA transcript variant X1	XM_017024836.3:c.206-8140… XM_017024836.3:c.206-81404T>A	N/A	Intron Variant
PRKCA transcript variant X5	XM_047436388.1:c.-270-172… XM_047436388.1:c.-270-17210T>A	N/A	Intron Variant
PRKCA transcript variant X10	XM_047436389.1:c.206-8140… XM_047436389.1:c.206-81404T>A	N/A	Intron Variant
PRKCA transcript variant X2	XM_017024837.2:c.	N/A	Genic Upstream Transcript Variant
PRKCA transcript variant X3	XM_024450829.2:c.	N/A	Genic Upstream Transcript Variant
PRKCA transcript variant X4	XM_024450830.2:c.	N/A	Genic Upstream Transcript Variant
PRKCA transcript variant X9	XR_001752558.2:n.	N/A	Intron Variant
PRKCA transcript variant X6	XR_007065315.1:n.	N/A	Intron Variant
PRKCA transcript variant X7	XR_007065316.1:n.	N/A	Intron Variant
PRKCA transcript variant X8	XR_007065317.1:n.	N/A	Intron Variant

Gene: PRKCA-AS1, PRKCA antisense RNA 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PRKCA-AS1 transcript	NR_110822.1:n.	N/A	Intron Variant

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=	A	C	G
GRCh38.p14 chr 17	NC_000017.11:g.66414797=	NC_000017.11:g.66414797T>A	NC_000017.11:g.66414797T>C	NC_000017.11:g.66414797T>G
GRCh37.p13 chr 17	NC_000017.10:g.64410915=	NC_000017.10:g.64410915T>A	NC_000017.10:g.64410915T>C	NC_000017.10:g.64410915T>G
PRKCA RefSeqGene	NG_012206.1:g.116990=	NG_012206.1:g.116990T>A	NG_012206.1:g.116990T>C	NG_012206.1:g.116990T>G
PRKCA transcript	NM_002737.2:c.206-81404=	NM_002737.2:c.206-81404T>A	NM_002737.2:c.206-81404T>C	NM_002737.2:c.206-81404T>G
PRKCA transcript	NM_002737.3:c.206-81404=	NM_002737.3:c.206-81404T>A	NM_002737.3:c.206-81404T>C	NM_002737.3:c.206-81404T>G
PRKCA transcript variant X1	XM_005257502.1:c.206-81404=	XM_005257502.1:c.206-81404T>A	XM_005257502.1:c.206-81404T>C	XM_005257502.1:c.206-81404T>G
PRKCA transcript variant X1	XM_017024836.3:c.206-81404=	XM_017024836.3:c.206-81404T>A	XM_017024836.3:c.206-81404T>C	XM_017024836.3:c.206-81404T>G
PRKCA transcript variant X5	XM_047436388.1:c.-270-17210=	XM_047436388.1:c.-270-17210T>A	XM_047436388.1:c.-270-17210T>C	XM_047436388.1:c.-270-17210T>G
PRKCA transcript variant X10	XM_047436389.1:c.206-81404=	XM_047436389.1:c.206-81404T>A	XM_047436389.1:c.206-81404T>C	XM_047436389.1:c.206-81404T>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#.

133 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss6611316	Feb 20, 2003 (111)
2	WI_SSAHASNP	ss12392450	Jul 11, 2003 (116)
3	BCM_SSAHASNP	ss14279743	Dec 05, 2003 (119)
4	SSAHASNP	ss21382701	Apr 05, 2004 (121)
5	PERLEGEN	ss23624765	Sep 20, 2004 (123)
6	ILLUMINA	ss66588264	Nov 30, 2006 (127)
7	ILLUMINA	ss67377201	Nov 30, 2006 (127)
8	ILLUMINA	ss67757036	Nov 30, 2006 (127)
9	ILLUMINA	ss70825247	May 25, 2008 (130)
10	ILLUMINA	ss71407274	May 17, 2007 (127)
11	ILLUMINA	ss74962491	Dec 07, 2007 (129)
12	HGSV	ss78983745	Dec 07, 2007 (129)
13	ILLUMINA	ss79195513	Dec 15, 2007 (130)
14	HGSV	ss83028173	Dec 15, 2007 (130)
15	KRIBB_YJKIM	ss84354104	Dec 15, 2007 (130)
16	HGSV	ss85549691	Dec 15, 2007 (130)
17	BCMHGSC_JDW	ss90641282	Mar 24, 2008 (129)
18	HUMANGENOME_JCVI	ss96554786	Feb 06, 2009 (130)
19	BGI	ss106516149	Feb 06, 2009 (130)
20	1000GENOMES	ss109871517	Jan 24, 2009 (130)
21	1000GENOMES	ss113743105	Jan 25, 2009 (130)
22	ILLUMINA-UK	ss118105495	Feb 14, 2009 (130)
23	ILLUMINA	ss122389226	Dec 01, 2009 (131)
24	ENSEMBL	ss136526148	Dec 01, 2009 (131)
25	ENSEMBL	ss137153544	Dec 01, 2009 (131)
26	ILLUMINA	ss154317634	Dec 01, 2009 (131)
27	GMI	ss154554351	Dec 01, 2009 (131)
28	ILLUMINA	ss159494320	Dec 01, 2009 (131)
29	ILLUMINA	ss160712214	Dec 01, 2009 (131)
30	COMPLETE_GENOMICS	ss168412282	Jul 04, 2010 (132)
31	COMPLETE_GENOMICS	ss170036595	Jul 04, 2010 (132)
32	COMPLETE_GENOMICS	ss171642267	Jul 04, 2010 (132)
33	ILLUMINA	ss171919098	Jul 04, 2010 (132)
34	ILLUMINA	ss173814909	Jul 04, 2010 (132)
35	BUSHMAN	ss202702216	Jul 04, 2010 (132)
36	BCM-HGSC-SUB	ss207851063	Jul 04, 2010 (132)
37	1000GENOMES	ss227622320	Jul 14, 2010 (132)
38	1000GENOMES	ss237298122	Jul 15, 2010 (132)
39	1000GENOMES	ss243581356	Jul 15, 2010 (132)
40	BL	ss255746022	May 09, 2011 (134)
41	GMI	ss282818206	May 04, 2012 (137)
42	GMI	ss287204215	Apr 25, 2013 (138)
43	PJP	ss291982279	May 09, 2011 (134)
44	ILLUMINA	ss481049485	May 04, 2012 (137)
45	ILLUMINA	ss481070943	May 04, 2012 (137)
46	ILLUMINA	ss482063089	Sep 08, 2015 (146)
47	ILLUMINA	ss485319720	May 04, 2012 (137)
48	ILLUMINA	ss537274760	Sep 08, 2015 (146)
49	TISHKOFF	ss565365237	Apr 25, 2013 (138)
50	SSMP	ss661177058	Apr 25, 2013 (138)
51	ILLUMINA	ss779055729	Aug 21, 2014 (142)
52	ILLUMINA	ss783105679	Sep 08, 2015 (146)
53	ILLUMINA	ss784062814	Aug 21, 2014 (142)
54	ILLUMINA	ss825526031	Apr 01, 2015 (144)
55	ILLUMINA	ss832364291	Sep 08, 2015 (146)
56	ILLUMINA	ss833005705	Jul 13, 2019 (153)
57	ILLUMINA	ss834518774	Aug 21, 2014 (142)
58	EVA-GONL	ss993266973	Aug 21, 2014 (142)
59	JMKIDD_LAB	ss1081167086	Aug 21, 2014 (142)
60	1000GENOMES	ss1359285090	Aug 21, 2014 (142)
61	DDI	ss1428077900	Apr 01, 2015 (144)
62	EVA_GENOME_DK	ss1578217894	Apr 01, 2015 (144)
63	EVA_UK10K_ALSPAC	ss1635969934	Apr 01, 2015 (144)
64	EVA_UK10K_TWINSUK	ss1678963967	Apr 01, 2015 (144)
65	EVA_DECODE	ss1697315078	Apr 01, 2015 (144)
66	EVA_SVP	ss1713593278	Apr 01, 2015 (144)
67	ILLUMINA	ss1752235394	Sep 08, 2015 (146)
68	HAMMER_LAB	ss1808851141	Sep 08, 2015 (146)
69	WEILL_CORNELL_DGM	ss1936728152	Feb 12, 2016 (147)
70	GENOMED	ss1968420798	Jul 19, 2016 (147)
71	JJLAB	ss2029136390	Sep 14, 2016 (149)
72	USC_VALOUEV	ss2157618522	Dec 20, 2016 (150)
73	HUMAN_LONGEVITY	ss2218105024	Dec 20, 2016 (150)
74	SYSTEMSBIOZJU	ss2629062247	Nov 08, 2017 (151)
75	ILLUMINA	ss2633415178	Nov 08, 2017 (151)
76	ILLUMINA	ss2635073551	Nov 08, 2017 (151)
77	GRF	ss2702182286	Nov 08, 2017 (151)
78	GNOMAD	ss2951737682	Nov 08, 2017 (151)
79	AFFY	ss2985738289	Nov 08, 2017 (151)
80	SWEGEN	ss3015796931	Nov 08, 2017 (151)
81	BIOINF_KMB_FNS_UNIBA	ss3028390337	Nov 08, 2017 (151)
82	CSHL	ss3351810084	Nov 08, 2017 (151)
83	ILLUMINA	ss3627705635	Oct 12, 2018 (152)
84	ILLUMINA	ss3631395139	Oct 12, 2018 (152)
85	ILLUMINA	ss3633146460	Oct 12, 2018 (152)
86	ILLUMINA	ss3633854302	Oct 12, 2018 (152)
87	ILLUMINA	ss3634683483	Oct 12, 2018 (152)
88	ILLUMINA	ss3635541946	Oct 12, 2018 (152)
89	ILLUMINA	ss3636372569	Oct 12, 2018 (152)
90	ILLUMINA	ss3637293513	Oct 12, 2018 (152)
91	ILLUMINA	ss3638171098	Oct 12, 2018 (152)
92	ILLUMINA	ss3639093694	Oct 12, 2018 (152)
93	ILLUMINA	ss3639554159	Oct 12, 2018 (152)
94	ILLUMINA	ss3640390793	Oct 12, 2018 (152)
95	ILLUMINA	ss3641082994	Oct 12, 2018 (152)
96	ILLUMINA	ss3641378470	Oct 12, 2018 (152)
97	ILLUMINA	ss3643148872	Oct 12, 2018 (152)
98	URBANLAB	ss3650687735	Oct 12, 2018 (152)
99	EGCUT_WGS	ss3682664749	Jul 13, 2019 (153)
100	EVA_DECODE	ss3700783475	Jul 13, 2019 (153)
101	ACPOP	ss3742158878	Jul 13, 2019 (153)
102	ILLUMINA	ss3744983739	Jul 13, 2019 (153)
103	EVA	ss3754853059	Jul 13, 2019 (153)
104	ILLUMINA	ss3772481498	Jul 13, 2019 (153)
105	PACBIO	ss3788249617	Jul 13, 2019 (153)
106	PACBIO	ss3793197877	Jul 13, 2019 (153)
107	PACBIO	ss3798083824	Jul 13, 2019 (153)
108	KHV_HUMAN_GENOMES	ss3820118955	Jul 13, 2019 (153)
109	EVA	ss3834944854	Apr 27, 2020 (154)
110	EVA	ss3841084107	Apr 27, 2020 (154)
111	EVA	ss3846581973	Apr 27, 2020 (154)
112	HGDP	ss3847568485	Apr 27, 2020 (154)
113	SGDP_PRJ	ss3886079112	Apr 27, 2020 (154)
114	KRGDB	ss3935833345	Apr 27, 2020 (154)
115	KOGIC	ss3979163350	Apr 27, 2020 (154)
116	EVA	ss3985799397	Apr 26, 2021 (155)
117	EVA	ss4017775196	Apr 26, 2021 (155)
118	TOPMED	ss5041644377	Apr 26, 2021 (155)
119	TOMMO_GENOMICS	ss5223175795	Apr 26, 2021 (155)
120	1000G_HIGH_COVERAGE	ss5303702392	Oct 16, 2022 (156)
121	EVA	ss5315896794	Oct 16, 2022 (156)
122	EVA	ss5428610491	Oct 16, 2022 (156)
123	HUGCELL_USP	ss5496687331	Oct 16, 2022 (156)
124	EVA	ss5511811218	Oct 16, 2022 (156)
125	1000G_HIGH_COVERAGE	ss5607699346	Oct 16, 2022 (156)
126	SANFORD_IMAGENETICS	ss5660414448	Oct 16, 2022 (156)
127	TOMMO_GENOMICS	ss5779628916	Oct 16, 2022 (156)
128	EVA	ss5799979623	Oct 16, 2022 (156)
129	YY_MCH	ss5816672204	Oct 16, 2022 (156)
130	EVA	ss5834197819	Oct 16, 2022 (156)
131	EVA	ss5851868298	Oct 16, 2022 (156)
132	EVA	ss5914565898	Oct 16, 2022 (156)
133	EVA	ss5951810057	Oct 16, 2022 (156)
134	1000Genomes	NC_000017.10 - 64410915	Oct 12, 2018 (152)
135	1000Genomes_30x	NC_000017.11 - 66414797	Oct 16, 2022 (156)
136	The Avon Longitudinal Study of Parents and Children	NC_000017.10 - 64410915	Oct 12, 2018 (152)
137	Genetic variation in the Estonian population	NC_000017.10 - 64410915	Oct 12, 2018 (152)
138	The Danish reference pan genome	NC_000017.10 - 64410915	Apr 27, 2020 (154)
139	gnomAD - Genomes	NC_000017.11 - 66414797	Apr 26, 2021 (155)
140	Genome of the Netherlands Release 5	NC_000017.10 - 64410915	Apr 27, 2020 (154)
141	HGDP-CEPH-db Supplement 1	NC_000017.9 - 61841377	Apr 27, 2020 (154)
142	HapMap	NC_000017.11 - 66414797	Apr 27, 2020 (154)
143	KOREAN population from KRGDB	NC_000017.10 - 64410915	Apr 27, 2020 (154)
144	Korean Genome Project	NC_000017.11 - 66414797	Apr 27, 2020 (154)
145	Northern Sweden	NC_000017.10 - 64410915	Jul 13, 2019 (153)
146	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000017.10 - 64410915	Apr 26, 2021 (155)
147	Qatari	NC_000017.10 - 64410915	Apr 27, 2020 (154)
148	SGDP_PRJ	NC_000017.10 - 64410915	Apr 27, 2020 (154)
149	Siberian	NC_000017.10 - 64410915	Apr 27, 2020 (154)
150	8.3KJPN	NC_000017.10 - 64410915	Apr 26, 2021 (155)
151	14KJPN	NC_000017.11 - 66414797	Oct 16, 2022 (156)
152	TopMed	NC_000017.11 - 66414797	Apr 26, 2021 (155)
153	UK 10K study - Twins	NC_000017.10 - 64410915	Oct 12, 2018 (152)
154	A Vietnamese Genetic Variation Database	NC_000017.10 - 64410915	Jul 13, 2019 (153)
155	ALFA	NC_000017.11 - 66414797	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)
rs60077577	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
43010739, ss3935833345	NC_000017.10:64410914:T:A	NC_000017.11:66414796:T:A	(self)
246377, ss78983745, ss83028173, ss85549691, ss90641282, ss109871517, ss113743105, ss118105495, ss160712214, ss168412282, ss170036595, ss171642267, ss202702216, ss207851063, ss255746022, ss282818206, ss287204215, ss291982279, ss481049485, ss825526031, ss1697315078, ss1713593278, ss2635073551, ss3639093694, ss3639554159, ss3643148872, ss3847568485	NC_000017.9:61841376:T:C	NC_000017.11:66414796:T:C	(self)
72551288, 40201204, 28402997, 4417765, 17912150, 43010739, 15443743, 1025324, 18770074, 38096092, 10134876, 81145102, 40201204, 8887476, ss227622320, ss237298122, ss243581356, ss481070943, ss482063089, ss485319720, ss537274760, ss565365237, ss661177058, ss779055729, ss783105679, ss784062814, ss832364291, ss833005705, ss834518774, ss993266973, ss1081167086, ss1359285090, ss1428077900, ss1578217894, ss1635969934, ss1678963967, ss1752235394, ss1808851141, ss1936728152, ss1968420798, ss2029136390, ss2157618522, ss2629062247, ss2633415178, ss2702182286, ss2951737682, ss2985738289, ss3015796931, ss3351810084, ss3627705635, ss3631395139, ss3633146460, ss3633854302, ss3634683483, ss3635541946, ss3636372569, ss3637293513, ss3638171098, ss3640390793, ss3641082994, ss3641378470, ss3682664749, ss3742158878, ss3744983739, ss3754853059, ss3772481498, ss3788249617, ss3793197877, ss3798083824, ss3834944854, ss3841084107, ss3886079112, ss3935833345, ss3985799397, ss4017775196, ss5223175795, ss5315896794, ss5428610491, ss5511811218, ss5660414448, ss5799979623, ss5834197819, ss5951810057	NC_000017.10:64410914:T:C	NC_000017.11:66414796:T:C	(self)
95225281, 512018278, 1515304, 35541351, 113466020, 257190039, 10566504344, ss2218105024, ss3028390337, ss3650687735, ss3700783475, ss3820118955, ss3846581973, ss3979163350, ss5041644377, ss5303702392, ss5496687331, ss5607699346, ss5779628916, ss5816672204, ss5851868298, ss5914565898	NC_000017.11:66414796:T:C	NC_000017.11:66414796:T:C	(self)
ss12392450	NT_010783.13:19779576:T:C	NC_000017.11:66414796:T:C	(self)
ss14279743, ss21382701	NT_010783.14:23139655:T:C	NC_000017.11:66414796:T:C	(self)
ss6611316, ss23624765, ss66588264, ss67377201, ss67757036, ss70825247, ss71407274, ss74962491, ss79195513, ss84354104, ss96554786, ss106516149, ss122389226, ss136526148, ss137153544, ss154317634, ss154554351, ss159494320, ss171919098, ss173814909	NT_010783.15:29685066:T:C	NC_000017.11:66414796:T:C	(self)
43010739, ss3935833345	NC_000017.10:64410914:T:G	NC_000017.11:66414796: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 rs4790911

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs4790911