Name: rs571715
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.

rs571715

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr10:6514592 (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: C=0.199293 (60398/303062, ALFA)
C=0.257052 (68039/264690, TOPMED)
C=0.254299 (35638/140142, GnomAD) (+ 21 more)
C=0.28818 (22672/78674, PAGE_STUDY)
C=0.29245 (8264/28258, 14KJPN)
C=0.29159 (4887/16760, 8.3KJPN)
C=0.2939 (1882/6404, 1000G_30x)
C=0.2951 (1478/5008, 1000G)
C=0.1583 (709/4480, Estonian)
C=0.2016 (777/3854, ALSPAC)
C=0.1936 (718/3708, TWINSUK)
C=0.2894 (848/2930, KOREAN)
C=0.2562 (534/2084, HGDP_Stanford)
C=0.3303 (625/1892, HapMap)
C=0.3171 (581/1832, Korea1K)
C=0.194 (194/998, GoNL)
C=0.314 (247/786, PRJEB37584)
C=0.237 (142/600, NorthernSweden)
C=0.191 (99/518, SGDP_PRJ)
C=0.227 (49/216, Qatari)
C=0.364 (78/214, Vietnamese)
C=0.10 (6/58, Ancient Sardinia)
C=0.22 (12/54, Siberian)
C=0.23 (9/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: PRKCQ : Intron Variant
Publications: 2 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	308098	C=0.200086	T=0.799914
European	Sub	271234	C=0.191108	T=0.808892
African	Sub	9526	C=0.3991	T=0.6009
African Others	Sub	372	C=0.454	T=0.546
African American	Sub	9154	C=0.3969	T=0.6031
Asian	Sub	3924	C=0.3208	T=0.6792
East Asian	Sub	3178	C=0.3087	T=0.6913
Other Asian	Sub	746	C=0.373	T=0.627
Latin American 1	Sub	1134	C=0.2116	T=0.7884
Latin American 2	Sub	7220	C=0.1409	T=0.8591
South Asian	Sub	5224	C=0.2605	T=0.7395
Other	Sub	9836	C=0.2168	T=0.7832

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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	303062	C=0.199293	T=0.800707
Allele Frequency Aggregator	European	Sub	268140	C=0.191079	T=0.808921
Allele Frequency Aggregator	Other	Sub	9036	C=0.2165	T=0.7835
Allele Frequency Aggregator	African	Sub	8384	C=0.3971	T=0.6029
Allele Frequency Aggregator	Latin American 2	Sub	7220	C=0.1409	T=0.8591
Allele Frequency Aggregator	South Asian	Sub	5224	C=0.2605	T=0.7395
Allele Frequency Aggregator	Asian	Sub	3924	C=0.3208	T=0.6792
Allele Frequency Aggregator	Latin American 1	Sub	1134	C=0.2116	T=0.7884
TopMed	Global	Study-wide	264690	C=0.257052	T=0.742948
gnomAD - Genomes	Global	Study-wide	140142	C=0.254299	T=0.745701
gnomAD - Genomes	European	Sub	75916	C=0.19419	T=0.80581
gnomAD - Genomes	African	Sub	41982	C=0.39412	T=0.60588
gnomAD - Genomes	American	Sub	13642	C=0.14895	T=0.85105
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	C=0.2199	T=0.7801
gnomAD - Genomes	East Asian	Sub	3126	C=0.3397	T=0.6603
gnomAD - Genomes	Other	Sub	2152	C=0.2440	T=0.7560
The PAGE Study	Global	Study-wide	78674	C=0.28818	T=0.71182
The PAGE Study	AfricanAmerican	Sub	32504	C=0.38980	T=0.61020
The PAGE Study	Mexican	Sub	10802	C=0.14099	T=0.85901
The PAGE Study	Asian	Sub	8316	C=0.2982	T=0.7018
The PAGE Study	PuertoRican	Sub	7916	C=0.2326	T=0.7674
The PAGE Study	NativeHawaiian	Sub	4534	C=0.2109	T=0.7891
The PAGE Study	Cuban	Sub	4230	C=0.2137	T=0.7863
The PAGE Study	Dominican	Sub	3828	C=0.2894	T=0.7106
The PAGE Study	CentralAmerican	Sub	2450	C=0.1673	T=0.8327
The PAGE Study	SouthAmerican	Sub	1978	C=0.1552	T=0.8448
The PAGE Study	NativeAmerican	Sub	1260	C=0.1905	T=0.8095
The PAGE Study	SouthAsian	Sub	856	C=0.272	T=0.728
14KJPN	JAPANESE	Study-wide	28258	C=0.29245	T=0.70755
8.3KJPN	JAPANESE	Study-wide	16760	C=0.29159	T=0.70841
1000Genomes_30x	Global	Study-wide	6404	C=0.2939	T=0.7061
1000Genomes_30x	African	Sub	1786	C=0.4104	T=0.5896
1000Genomes_30x	Europe	Sub	1266	C=0.1833	T=0.8167
1000Genomes_30x	South Asian	Sub	1202	C=0.2895	T=0.7105
1000Genomes_30x	East Asian	Sub	1170	C=0.3410	T=0.6590
1000Genomes_30x	American	Sub	980	C=0.173	T=0.827
1000Genomes	Global	Study-wide	5008	C=0.2951	T=0.7049
1000Genomes	African	Sub	1322	C=0.4062	T=0.5938
1000Genomes	East Asian	Sub	1008	C=0.3472	T=0.6528
1000Genomes	Europe	Sub	1006	C=0.1799	T=0.8201
1000Genomes	South Asian	Sub	978	C=0.299	T=0.701
1000Genomes	American	Sub	694	C=0.170	T=0.830
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.1583	T=0.8417
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.2016	T=0.7984
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.1936	T=0.8064
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.2894	G=0.0000, T=0.7106
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	C=0.2562	T=0.7438
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.353	T=0.647
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.254	T=0.746
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.217	T=0.783
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.166	T=0.834
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.360	T=0.640
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.060	T=0.940
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.47	T=0.53
HapMap	Global	Study-wide	1892	C=0.3303	T=0.6697
HapMap	American	Sub	770	C=0.283	T=0.717
HapMap	African	Sub	692	C=0.418	T=0.582
HapMap	Asian	Sub	254	C=0.335	T=0.665
HapMap	Europe	Sub	176	C=0.188	T=0.812
Korean Genome Project	KOREAN	Study-wide	1832	C=0.3171	T=0.6829
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.194	T=0.806
CNV burdens in cranial meningiomas	Global	Study-wide	786	C=0.314	T=0.686
CNV burdens in cranial meningiomas	CRM	Sub	786	C=0.314	T=0.686
Northern Sweden	ACPOP	Study-wide	600	C=0.237	T=0.763
SGDP_PRJ	Global	Study-wide	518	C=0.191	T=0.809
Qatari	Global	Study-wide	216	C=0.227	T=0.773
A Vietnamese Genetic Variation Database	Global	Study-wide	214	C=0.364	T=0.636
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	58	C=0.10	T=0.90
Siberian	Global	Study-wide	54	C=0.22	T=0.78
The Danish reference pan genome	Danish	Study-wide	40	C=0.23	T=0.78

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 10	NC_000010.11:g.6514592C>G
GRCh38.p14 chr 10	NC_000010.11:g.6514592C>T
GRCh37.p13 chr 10	NC_000010.10:g.6556554C>G
GRCh37.p13 chr 10	NC_000010.10:g.6556554C>T

Gene: PRKCQ, protein kinase C theta (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PRKCQ transcript variant 2	NM_001242413.2:c.118+426G… NM_001242413.2:c.118+426G>C	N/A	Intron Variant
PRKCQ transcript variant 3	NM_001282644.2:c.12+426G>C	N/A	Intron Variant
PRKCQ transcript variant 4	NM_001282645.1:c.-197+426… NM_001282645.1:c.-197+426G>C	N/A	Intron Variant
PRKCQ transcript variant 5	NM_001323265.1:c.118+426G… NM_001323265.1:c.118+426G>C	N/A	Intron Variant
PRKCQ transcript variant 6	NM_001323266.2:c.-195+426… NM_001323266.2:c.-195+426G>C	N/A	Intron Variant
PRKCQ transcript variant 7	NM_001323267.2:c.12+426G>C	N/A	Intron Variant
PRKCQ transcript variant 1	NM_006257.5:c.118+426G>C	N/A	Intron Variant
PRKCQ transcript variant X1	XM_005252496.5:c.220+426G… XM_005252496.5:c.220+426G>C	N/A	Intron Variant
PRKCQ transcript variant X2	XM_005252497.5:c.220+426G… XM_005252497.5:c.220+426G>C	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	C=	G	T
GRCh38.p14 chr 10	NC_000010.11:g.6514592=	NC_000010.11:g.6514592C>G	NC_000010.11:g.6514592C>T
GRCh37.p13 chr 10	NC_000010.10:g.6556554=	NC_000010.10:g.6556554C>G	NC_000010.10:g.6556554C>T
PRKCQ transcript variant 2	NM_001242413.1:c.118+426=	NM_001242413.1:c.118+426G>C	NM_001242413.1:c.118+426G>A
PRKCQ transcript variant 2	NM_001242413.2:c.118+426=	NM_001242413.2:c.118+426G>C	NM_001242413.2:c.118+426G>A
PRKCQ transcript variant 3	NM_001282644.2:c.12+426=	NM_001282644.2:c.12+426G>C	NM_001282644.2:c.12+426G>A
PRKCQ transcript variant 4	NM_001282645.1:c.-197+426=	NM_001282645.1:c.-197+426G>C	NM_001282645.1:c.-197+426G>A
PRKCQ transcript variant 5	NM_001323265.1:c.118+426=	NM_001323265.1:c.118+426G>C	NM_001323265.1:c.118+426G>A
PRKCQ transcript variant 6	NM_001323266.2:c.-195+426=	NM_001323266.2:c.-195+426G>C	NM_001323266.2:c.-195+426G>A
PRKCQ transcript variant 7	NM_001323267.2:c.12+426=	NM_001323267.2:c.12+426G>C	NM_001323267.2:c.12+426G>A
PRKCQ transcript variant 1	NM_006257.3:c.118+426=	NM_006257.3:c.118+426G>C	NM_006257.3:c.118+426G>A
PRKCQ transcript variant 1	NM_006257.5:c.118+426=	NM_006257.5:c.118+426G>C	NM_006257.5:c.118+426G>A
PRKCQ transcript variant X1	XM_005252496.1:c.220+426=	XM_005252496.1:c.220+426G>C	XM_005252496.1:c.220+426G>A
PRKCQ transcript variant X1	XM_005252496.5:c.220+426=	XM_005252496.5:c.220+426G>C	XM_005252496.5:c.220+426G>A
PRKCQ transcript variant X2	XM_005252497.1:c.220+426=	XM_005252497.1:c.220+426G>C	XM_005252497.1:c.220+426G>A
PRKCQ transcript variant X2	XM_005252497.5:c.220+426=	XM_005252497.5:c.220+426G>C	XM_005252497.5:c.220+426G>A
PRKCQ transcript variant X3	XM_005252498.1:c.220+426=	XM_005252498.1:c.220+426G>C	XM_005252498.1:c.220+426G>A
PRKCQ transcript variant X4	XM_005252499.1:c.-197+426=	XM_005252499.1:c.-197+426G>C	XM_005252499.1:c.-197+426G>A

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#.

154 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss743058	Aug 11, 2000 (83)
2	KWOK	ss963875	Oct 04, 2000 (86)
3	WI_SSAHASNP	ss6546718	Feb 20, 2003 (111)
4	BCM_SSAHASNP	ss10599939	Jul 11, 2003 (116)
5	CSHL-HAPMAP	ss16469487	Feb 27, 2004 (120)
6	SSAHASNP	ss20685435	Apr 05, 2004 (121)
7	PERLEGEN	ss23468015	Sep 20, 2004 (123)
8	ILLUMINA	ss65757033	Oct 16, 2006 (127)
9	ILLUMINA	ss66653747	Dec 01, 2006 (127)
10	ILLUMINA	ss67419219	Dec 01, 2006 (127)
11	ILLUMINA	ss67780699	Dec 01, 2006 (127)
12	CSHL-HAPMAP	ss68369458	Jan 12, 2007 (127)
13	ILLUMINA	ss70846443	May 26, 2008 (130)
14	ILLUMINA	ss71431106	May 17, 2007 (127)
15	ILLUMINA	ss75506291	Dec 07, 2007 (129)
16	HGSV	ss77643466	Dec 07, 2007 (129)
17	ILLUMINA	ss79209268	Dec 15, 2007 (130)
18	KRIBB_YJKIM	ss83486640	Dec 15, 2007 (130)
19	HGSV	ss85819396	Dec 15, 2007 (130)
20	BCMHGSC_JDW	ss88081724	Mar 23, 2008 (129)
21	HUMANGENOME_JCVI	ss97532860	Feb 06, 2009 (130)
22	BGI	ss102850591	Dec 01, 2009 (131)
23	1000GENOMES	ss109199180	Jan 23, 2009 (130)
24	1000GENOMES	ss115307990	Jan 25, 2009 (130)
25	ILLUMINA-UK	ss119005186	Feb 15, 2009 (130)
26	ILLUMINA	ss122471364	Dec 01, 2009 (131)
27	ENSEMBL	ss131662911	Dec 01, 2009 (131)
28	ENSEMBL	ss137955314	Dec 01, 2009 (131)
29	ILLUMINA	ss154340249	Dec 01, 2009 (131)
30	GMI	ss154526117	Dec 01, 2009 (131)
31	ILLUMINA	ss159516827	Dec 01, 2009 (131)
32	ILLUMINA	ss160744415	Dec 01, 2009 (131)
33	COMPLETE_GENOMICS	ss167748657	Jul 04, 2010 (132)
34	COMPLETE_GENOMICS	ss168983699	Jul 04, 2010 (132)
35	COMPLETE_GENOMICS	ss170375180	Jul 04, 2010 (132)
36	ILLUMINA	ss172037106	Jul 04, 2010 (132)
37	ILLUMINA	ss173924870	Jul 04, 2010 (132)
38	BUSHMAN	ss201099889	Jul 04, 2010 (132)
39	BCM-HGSC-SUB	ss207051217	Jul 04, 2010 (132)
40	1000GENOMES	ss224545653	Jul 14, 2010 (132)
41	WTCCC	ss230391373	Jul 04, 2010 (132)
42	1000GENOMES	ss235038952	Jul 15, 2010 (132)
43	1000GENOMES	ss241774553	Jul 15, 2010 (132)
44	BL	ss254027628	May 09, 2011 (134)
45	GMI	ss280465580	May 04, 2012 (137)
46	GMI	ss286122990	Apr 25, 2013 (138)
47	PJP	ss290900636	May 09, 2011 (134)
48	ILLUMINA	ss481152520	May 04, 2012 (137)
49	ILLUMINA	ss481174840	May 04, 2012 (137)
50	ILLUMINA	ss482163220	Sep 08, 2015 (146)
51	ILLUMINA	ss485371440	May 04, 2012 (137)
52	ILLUMINA	ss537312878	Sep 08, 2015 (146)
53	TISHKOFF	ss561746798	Apr 25, 2013 (138)
54	SSMP	ss656253092	Apr 25, 2013 (138)
55	ILLUMINA	ss778930297	Sep 08, 2015 (146)
56	ILLUMINA	ss783131329	Sep 08, 2015 (146)
57	ILLUMINA	ss784087823	Sep 08, 2015 (146)
58	ILLUMINA	ss825539786	Apr 01, 2015 (144)
59	ILLUMINA	ss832390230	Sep 08, 2015 (146)
60	ILLUMINA	ss833028117	Jul 13, 2019 (153)
61	ILLUMINA	ss834391828	Sep 08, 2015 (146)
62	EVA-GONL	ss987159246	Aug 21, 2014 (142)
63	JMKIDD_LAB	ss1076733173	Aug 21, 2014 (142)
64	1000GENOMES	ss1336137550	Aug 21, 2014 (142)
65	DDI	ss1426209562	Apr 01, 2015 (144)
66	EVA_GENOME_DK	ss1574890839	Apr 01, 2015 (144)
67	EVA_DECODE	ss1596807312	Apr 01, 2015 (144)
68	EVA_UK10K_ALSPAC	ss1623915775	Apr 01, 2015 (144)
69	EVA_UK10K_TWINSUK	ss1666909808	Apr 01, 2015 (144)
70	EVA_SVP	ss1713154349	Apr 01, 2015 (144)
71	ILLUMINA	ss1751975939	Sep 08, 2015 (146)
72	HAMMER_LAB	ss1806239191	Sep 08, 2015 (146)
73	WEILL_CORNELL_DGM	ss1930480452	Feb 12, 2016 (147)
74	ILLUMINA	ss1946275176	Feb 12, 2016 (147)
75	ILLUMINA	ss1959237095	Feb 12, 2016 (147)
76	GENOMED	ss1967050055	Jul 19, 2016 (147)
77	JJLAB	ss2025963341	Sep 14, 2016 (149)
78	ILLUMINA	ss2094858910	Dec 20, 2016 (150)
79	ILLUMINA	ss2095005764	Dec 20, 2016 (150)
80	USC_VALOUEV	ss2154205438	Dec 20, 2016 (150)
81	HUMAN_LONGEVITY	ss2172373135	Dec 20, 2016 (150)
82	SYSTEMSBIOZJU	ss2627450658	Nov 08, 2017 (151)
83	ILLUMINA	ss2632670172	Nov 08, 2017 (151)
84	ILLUMINA	ss2635011212	Nov 08, 2017 (151)
85	GRF	ss2698429510	Nov 08, 2017 (151)
86	ILLUMINA	ss2710701849	Nov 08, 2017 (151)
87	GNOMAD	ss2885125422	Nov 08, 2017 (151)
88	SWEGEN	ss3005878809	Nov 08, 2017 (151)
89	ILLUMINA	ss3021211021	Nov 08, 2017 (151)
90	BIOINF_KMB_FNS_UNIBA	ss3026765218	Nov 08, 2017 (151)
91	CSHL	ss3348942869	Nov 08, 2017 (151)
92	ILLUMINA	ss3625572983	Oct 12, 2018 (152)
93	ILLUMINA	ss3626378726	Oct 12, 2018 (152)
94	ILLUMINA	ss3630698061	Oct 12, 2018 (152)
95	ILLUMINA	ss3632937122	Oct 12, 2018 (152)
96	ILLUMINA	ss3633633742	Oct 12, 2018 (152)
97	ILLUMINA	ss3634388545	Oct 12, 2018 (152)
98	ILLUMINA	ss3635326575	Oct 12, 2018 (152)
99	ILLUMINA	ss3636068372	Oct 12, 2018 (152)
100	ILLUMINA	ss3637077162	Oct 12, 2018 (152)
101	ILLUMINA	ss3637832019	Oct 12, 2018 (152)
102	ILLUMINA	ss3638931334	Oct 12, 2018 (152)
103	ILLUMINA	ss3639465029	Oct 12, 2018 (152)
104	ILLUMINA	ss3640095893	Oct 12, 2018 (152)
105	ILLUMINA	ss3640996937	Oct 12, 2018 (152)
106	ILLUMINA	ss3641291138	Oct 12, 2018 (152)
107	ILLUMINA	ss3642836906	Oct 12, 2018 (152)
108	ILLUMINA	ss3644527849	Oct 12, 2018 (152)
109	URBANLAB	ss3649281069	Oct 12, 2018 (152)
110	ILLUMINA	ss3651559413	Oct 12, 2018 (152)
111	ILLUMINA	ss3651559414	Oct 12, 2018 (152)
112	EGCUT_WGS	ss3673405732	Jul 13, 2019 (153)
113	EVA_DECODE	ss3689210452	Jul 13, 2019 (153)
114	ILLUMINA	ss3725132509	Jul 13, 2019 (153)
115	ACPOP	ss3737028716	Jul 13, 2019 (153)
116	ILLUMINA	ss3744065559	Jul 13, 2019 (153)
117	ILLUMINA	ss3744689418	Jul 13, 2019 (153)
118	EVA	ss3747702062	Jul 13, 2019 (153)
119	PAGE_CC	ss3771539669	Jul 13, 2019 (153)
120	ILLUMINA	ss3772190131	Jul 13, 2019 (153)
121	PACBIO	ss3786570966	Jul 13, 2019 (153)
122	PACBIO	ss3791764788	Jul 13, 2019 (153)
123	PACBIO	ss3796646569	Jul 13, 2019 (153)
124	KHV_HUMAN_GENOMES	ss3813064944	Jul 13, 2019 (153)
125	EVA	ss3831948162	Apr 26, 2020 (154)
126	EVA	ss3839504965	Apr 26, 2020 (154)
127	EVA	ss3844970972	Apr 26, 2020 (154)
128	HGDP	ss3847374227	Apr 26, 2020 (154)
129	SGDP_PRJ	ss3873457614	Apr 26, 2020 (154)
130	KRGDB	ss3921393557	Apr 26, 2020 (154)
131	KOGIC	ss3967134999	Apr 26, 2020 (154)
132	EVA	ss3984629175	Apr 26, 2021 (155)
133	EVA	ss3985455536	Apr 26, 2021 (155)
134	EVA	ss4017468651	Apr 26, 2021 (155)
135	TOPMED	ss4841300860	Apr 26, 2021 (155)
136	TOMMO_GENOMICS	ss5196105343	Apr 26, 2021 (155)
137	1000G_HIGH_COVERAGE	ss5282796042	Oct 16, 2022 (156)
138	EVA	ss5315448252	Oct 16, 2022 (156)
139	EVA	ss5391372595	Oct 16, 2022 (156)
140	HUGCELL_USP	ss5478586250	Oct 16, 2022 (156)
141	EVA	ss5509892565	Oct 16, 2022 (156)
142	1000G_HIGH_COVERAGE	ss5576125977	Oct 16, 2022 (156)
143	SANFORD_IMAGENETICS	ss5624238933	Oct 16, 2022 (156)
144	SANFORD_IMAGENETICS	ss5648605695	Oct 16, 2022 (156)
145	TOMMO_GENOMICS	ss5740907079	Oct 16, 2022 (156)
146	EVA	ss5799802297	Oct 16, 2022 (156)
147	YY_MCH	ss5811164446	Oct 16, 2022 (156)
148	EVA	ss5823925851	Oct 16, 2022 (156)
149	EVA	ss5847367044	Oct 16, 2022 (156)
150	EVA	ss5847585661	Oct 16, 2022 (156)
151	EVA	ss5849421667	Oct 16, 2022 (156)
152	EVA	ss5877597250	Oct 16, 2022 (156)
153	EVA	ss5939887098	Oct 16, 2022 (156)
154	EVA	ss5979315622	Oct 16, 2022 (156)
155	1000Genomes	NC_000010.10 - 6556554	Oct 12, 2018 (152)
156	1000Genomes_30x	NC_000010.11 - 6514592	Oct 16, 2022 (156)
157	The Avon Longitudinal Study of Parents and Children	NC_000010.10 - 6556554	Oct 12, 2018 (152)
158	Genetic variation in the Estonian population	NC_000010.10 - 6556554	Oct 12, 2018 (152)
159	The Danish reference pan genome	NC_000010.10 - 6556554	Apr 26, 2020 (154)
160	gnomAD - Genomes	NC_000010.11 - 6514592	Apr 26, 2021 (155)
161	Genome of the Netherlands Release 5	NC_000010.10 - 6556554	Apr 26, 2020 (154)
162	HGDP-CEPH-db Supplement 1	NC_000010.9 - 6596560	Apr 26, 2020 (154)
163	HapMap	NC_000010.11 - 6514592	Apr 26, 2020 (154)
164	KOREAN population from KRGDB	NC_000010.10 - 6556554	Apr 26, 2020 (154)
165	Korean Genome Project	NC_000010.11 - 6514592	Apr 26, 2020 (154)
166	Northern Sweden	NC_000010.10 - 6556554	Jul 13, 2019 (153)
167	The PAGE Study	NC_000010.11 - 6514592	Jul 13, 2019 (153)
168	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000010.10 - 6556554	Apr 26, 2021 (155)
169	CNV burdens in cranial meningiomas	NC_000010.10 - 6556554	Apr 26, 2021 (155)
170	Qatari	NC_000010.10 - 6556554	Apr 26, 2020 (154)
171	SGDP_PRJ	NC_000010.10 - 6556554	Apr 26, 2020 (154)
172	Siberian	NC_000010.10 - 6556554	Apr 26, 2020 (154)
173	8.3KJPN	NC_000010.10 - 6556554	Apr 26, 2021 (155)
174	14KJPN	NC_000010.11 - 6514592	Oct 16, 2022 (156)
175	TopMed	NC_000010.11 - 6514592	Apr 26, 2021 (155)
176	UK 10K study - Twins	NC_000010.10 - 6556554	Oct 12, 2018 (152)
177	A Vietnamese Genetic Variation Database	NC_000010.10 - 6556554	Jul 13, 2019 (153)
178	ALFA	NC_000010.11 - 6514592	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)
rs60554081	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
28570951, ss3921393557	NC_000010.10:6556553:C:G	NC_000010.11:6514591:C:G	(self)
ss77643466, ss85819396, ss3638931334, ss3639465029	NC_000010.8:6596559:C:T	NC_000010.11:6514591:C:T	(self)
52119, ss88081724, ss109199180, ss115307990, ss119005186, ss167748657, ss168983699, ss170375180, ss201099889, ss207051217, ss254027628, ss280465580, ss286122990, ss290900636, ss481152520, ss825539786, ss1596807312, ss1713154349, ss2094858910, ss2635011212, ss3642836906, ss3847374227	NC_000010.9:6596559:C:T	NC_000010.11:6514591:C:T	(self)
48479157, 26936691, 19143980, 2015395, 12014085, 28570951, 10313581, 681463, 178631, 12522382, 25474594, 6721792, 54074650, 26936691, 5979571, ss224545653, ss235038952, ss241774553, ss481174840, ss482163220, ss485371440, ss537312878, ss561746798, ss656253092, ss778930297, ss783131329, ss784087823, ss832390230, ss833028117, ss834391828, ss987159246, ss1076733173, ss1336137550, ss1426209562, ss1574890839, ss1623915775, ss1666909808, ss1751975939, ss1806239191, ss1930480452, ss1946275176, ss1959237095, ss1967050055, ss2025963341, ss2095005764, ss2154205438, ss2627450658, ss2632670172, ss2698429510, ss2710701849, ss2885125422, ss3005878809, ss3021211021, ss3348942869, ss3625572983, ss3626378726, ss3630698061, ss3632937122, ss3633633742, ss3634388545, ss3635326575, ss3636068372, ss3637077162, ss3637832019, ss3640095893, ss3640996937, ss3641291138, ss3644527849, ss3651559413, ss3651559414, ss3673405732, ss3737028716, ss3744065559, ss3744689418, ss3747702062, ss3772190131, ss3786570966, ss3791764788, ss3796646569, ss3831948162, ss3839504965, ss3873457614, ss3921393557, ss3984629175, ss3985455536, ss4017468651, ss5196105343, ss5315448252, ss5391372595, ss5509892565, ss5624238933, ss5648605695, ss5799802297, ss5823925851, ss5847367044, ss5847585661, ss5939887098, ss5979315622	NC_000010.10:6556553:C:T	NC_000010.11:6514591:C:T	(self)
63651912, 342465947, 330600, 23513000, 761138, 74744183, 56846515, 13216379998, ss2172373135, ss3026765218, ss3649281069, ss3689210452, ss3725132509, ss3771539669, ss3813064944, ss3844970972, ss3967134999, ss4841300860, ss5282796042, ss5478586250, ss5576125977, ss5740907079, ss5811164446, ss5849421667, ss5877597250	NC_000010.11:6514591:C:T	NC_000010.11:6514591:C:T	(self)
ss743058, ss963875, ss6546718, ss23468015, ss65757033, ss66653747, ss67419219, ss67780699, ss68369458, ss70846443, ss71431106, ss75506291, ss79209268, ss83486640, ss97532860, ss102850591, ss122471364, ss131662911, ss137955314, ss154340249, ss154526117, ss159516827, ss160744415, ss172037106, ss173924870	NT_008705.16:6496553:C:T	NC_000010.11:6514591:C:T	(self)
ss10599939, ss16469487, ss20685435, ss230391373	NT_077569.2:919449:C:T	NC_000010.11:6514591:C:T	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

2 citations for rs571715

PMID	Title	Author	Year	Journal
22546513	Interaction among apoptosis-associated sequence variants and joint effects on aggressive prostate cancer.	Lavender NA et al.	2012	BMC medical genomics
27187382	Sirolimus and Everolimus Pathway: Reviewing Candidate Genes Influencing Their Intracellular Effects.	Granata S et al.	2016	International journal of molecular sciences

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

rs571715