Name: rs1543427
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.

rs1543427

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr20:11609819 (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=0.202232 (58960/291546, ALFA)
T=0.191567 (50706/264690, TOPMED)
T=0.16671 (13116/78676, PAGE_STUDY) (+ 20 more)
T=0.04650 (1314/28258, 14KJPN)
T=0.04517 (757/16760, 8.3KJPN)
T=0.1850 (1185/6404, 1000G_30x)
T=0.1851 (927/5008, 1000G)
T=0.2308 (1034/4480, Estonian)
T=0.2239 (863/3854, ALSPAC)
T=0.2160 (801/3708, TWINSUK)
T=0.0543 (159/2930, KOREAN)
T=0.1492 (311/2084, HGDP_Stanford)
T=0.1506 (284/1886, HapMap)
T=0.0480 (88/1832, Korea1K)
T=0.231 (231/998, GoNL)
T=0.068 (54/790, PRJEB37584)
T=0.255 (153/600, NorthernSweden)
T=0.125 (65/522, SGDP_PRJ)
T=0.116 (25/216, Qatari)
T=0.098 (21/214, Vietnamese)
T=0.11 (10/92, Ancient Sardinia)
T=0.18 (10/56, Siberian)
T=0.28 (11/40, GENOME_DK)

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	296580	T=0.202185	C=0.000000, G=0.797815
European	Sub	263934	T=0.204684	C=0.000000, G=0.795316
African	Sub	6890	T=0.2308	C=0.0000, G=0.7692
African Others	Sub	288	T=0.188	C=0.000, G=0.812
African American	Sub	6602	T=0.2327	C=0.0000, G=0.7673
Asian	Sub	3832	T=0.0741	C=0.0000, G=0.9259
East Asian	Sub	3110	T=0.0543	C=0.0000, G=0.9457
Other Asian	Sub	722	T=0.159	C=0.000, G=0.841
Latin American 1	Sub	992	T=0.161	C=0.000, G=0.839
Latin American 2	Sub	6590	T=0.1228	C=0.0000, G=0.8772
South Asian	Sub	5134	T=0.2883	C=0.0000, G=0.7117
Other	Sub	9208	T=0.1757	C=0.0000, G=0.8243

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	291546	T=0.202232	C=0.000000, G=0.797768
Allele Frequency Aggregator	European	Sub	260840	T=0.204704	C=0.000000, G=0.795296
Allele Frequency Aggregator	Other	Sub	8408	T=0.1752	C=0.0000, G=0.8248
Allele Frequency Aggregator	Latin American 2	Sub	6590	T=0.1228	C=0.0000, G=0.8772
Allele Frequency Aggregator	African	Sub	5750	T=0.2363	C=0.0000, G=0.7637
Allele Frequency Aggregator	South Asian	Sub	5134	T=0.2883	C=0.0000, G=0.7117
Allele Frequency Aggregator	Asian	Sub	3832	T=0.0741	C=0.0000, G=0.9259
Allele Frequency Aggregator	Latin American 1	Sub	992	T=0.161	C=0.000, G=0.839
TopMed	Global	Study-wide	264690	T=0.191567	G=0.808433
The PAGE Study	Global	Study-wide	78676	T=0.16671	G=0.83329
The PAGE Study	AfricanAmerican	Sub	32494	T=0.22518	G=0.77482
The PAGE Study	Mexican	Sub	10810	T=0.11249	G=0.88751
The PAGE Study	Asian	Sub	8316	T=0.0528	G=0.9472
The PAGE Study	PuertoRican	Sub	7916	T=0.1444	G=0.8556
The PAGE Study	NativeHawaiian	Sub	4534	T=0.1231	G=0.8769
The PAGE Study	Cuban	Sub	4230	T=0.1726	G=0.8274
The PAGE Study	Dominican	Sub	3828	T=0.1881	G=0.8119
The PAGE Study	CentralAmerican	Sub	2450	T=0.1159	G=0.8841
The PAGE Study	SouthAmerican	Sub	1982	T=0.1160	G=0.8840
The PAGE Study	NativeAmerican	Sub	1260	T=0.1929	G=0.8071
The PAGE Study	SouthAsian	Sub	856	T=0.276	G=0.724
14KJPN	JAPANESE	Study-wide	28258	T=0.04650	G=0.95350
8.3KJPN	JAPANESE	Study-wide	16760	T=0.04517	G=0.95483
1000Genomes_30x	Global	Study-wide	6404	T=0.1850	G=0.8150
1000Genomes_30x	African	Sub	1786	T=0.2217	G=0.7783
1000Genomes_30x	Europe	Sub	1266	T=0.1943	G=0.8057
1000Genomes_30x	South Asian	Sub	1202	T=0.3062	G=0.6938
1000Genomes_30x	East Asian	Sub	1170	T=0.0641	G=0.9359
1000Genomes_30x	American	Sub	980	T=0.102	G=0.898
1000Genomes	Global	Study-wide	5008	T=0.1851	G=0.8149
1000Genomes	African	Sub	1322	T=0.2209	G=0.7791
1000Genomes	East Asian	Sub	1008	T=0.0635	G=0.9365
1000Genomes	Europe	Sub	1006	T=0.1948	G=0.8052
1000Genomes	South Asian	Sub	978	T=0.311	G=0.689
1000Genomes	American	Sub	694	T=0.102	G=0.898
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.2308	G=0.7692
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.2239	G=0.7761
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.2160	G=0.7840
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.0543	A=0.0000, G=0.9457
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	T=0.1492	G=0.8508
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	T=0.081	G=0.919
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	T=0.234	G=0.766
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	T=0.129	G=0.871
HGDP-CEPH-db Supplement 1	Europe	Sub	320	T=0.178	G=0.822
HGDP-CEPH-db Supplement 1	Africa	Sub	242	T=0.140	G=0.860
HGDP-CEPH-db Supplement 1	America	Sub	216	T=0.032	G=0.968
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	T=0.46	G=0.54
HapMap	Global	Study-wide	1886	T=0.1506	G=0.8494
HapMap	American	Sub	770	T=0.171	G=0.829
HapMap	African	Sub	686	T=0.160	G=0.840
HapMap	Asian	Sub	254	T=0.059	G=0.941
HapMap	Europe	Sub	176	T=0.153	G=0.847
Korean Genome Project	KOREAN	Study-wide	1832	T=0.0480	G=0.9520
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.231	G=0.769
CNV burdens in cranial meningiomas	Global	Study-wide	790	T=0.068	G=0.932
CNV burdens in cranial meningiomas	CRM	Sub	790	T=0.068	G=0.932
Northern Sweden	ACPOP	Study-wide	600	T=0.255	G=0.745
SGDP_PRJ	Global	Study-wide	522	T=0.125	G=0.875
Qatari	Global	Study-wide	216	T=0.116	G=0.884
A Vietnamese Genetic Variation Database	Global	Study-wide	214	T=0.098	G=0.902
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	92	T=0.11	G=0.89
Siberian	Global	Study-wide	56	T=0.18	G=0.82
The Danish reference pan genome	Danish	Study-wide	40	T=0.28	G=0.72

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 20	NC_000020.11:g.11609819T>A
GRCh38.p14 chr 20	NC_000020.11:g.11609819T>C
GRCh38.p14 chr 20	NC_000020.11:g.11609819T>G
GRCh37.p13 chr 20	NC_000020.10:g.11590467T>A
GRCh37.p13 chr 20	NC_000020.10:g.11590467T>C
GRCh37.p13 chr 20	NC_000020.10:g.11590467T>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=	A	C	G
GRCh38.p14 chr 20	NC_000020.11:g.11609819=	NC_000020.11:g.11609819T>A	NC_000020.11:g.11609819T>C	NC_000020.11:g.11609819T>G
GRCh37.p13 chr 20	NC_000020.10:g.11590467=	NC_000020.10:g.11590467T>A	NC_000020.10:g.11590467T>C	NC_000020.10:g.11590467T>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#.

142 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss2385492	Oct 23, 2000 (88)
2	SC_SNP	ss8339528	Apr 21, 2003 (114)
3	CSHL-HAPMAP	ss16899725	Feb 27, 2004 (120)
4	CSHL-HAPMAP	ss17698951	Feb 27, 2004 (120)
5	SSAHASNP	ss21757054	Apr 05, 2004 (121)
6	ABI	ss44228060	Mar 13, 2006 (126)
7	ILLUMINA	ss66576949	Dec 02, 2006 (127)
8	ILLUMINA	ss67129478	Dec 02, 2006 (127)
9	ILLUMINA	ss67468930	Dec 02, 2006 (127)
10	ILLUMINA	ss70441832	May 18, 2007 (127)
11	ILLUMINA	ss70630679	May 27, 2008 (130)
12	ILLUMINA	ss71180663	May 18, 2007 (127)
13	ILLUMINA	ss74933501	Dec 06, 2007 (129)
14	HGSV	ss77265125	Dec 06, 2007 (129)
15	HGSV	ss82539172	Dec 16, 2007 (130)
16	KRIBB_YJKIM	ss83826382	Dec 16, 2007 (130)
17	BCMHGSC_JDW	ss91640836	Mar 24, 2008 (129)
18	BGI	ss106179414	Feb 06, 2009 (130)
19	1000GENOMES	ss111737062	Jan 25, 2009 (130)
20	1000GENOMES	ss113095455	Jan 25, 2009 (130)
21	ILLUMINA	ss121744290	Dec 01, 2009 (131)
22	ENSEMBL	ss135766137	Dec 01, 2009 (131)
23	ENSEMBL	ss138211434	Dec 01, 2009 (131)
24	ILLUMINA	ss153504315	Dec 01, 2009 (131)
25	GMI	ss156175124	Dec 01, 2009 (131)
26	ILLUMINA	ss159282881	Dec 01, 2009 (131)
27	ILLUMINA	ss160369875	Dec 01, 2009 (131)
28	COMPLETE_GENOMICS	ss167825710	Jul 04, 2010 (132)
29	COMPLETE_GENOMICS	ss169106348	Jul 04, 2010 (132)
30	ILLUMINA	ss170629689	Jul 04, 2010 (132)
31	ILLUMINA	ss172569983	Jul 04, 2010 (132)
32	BUSHMAN	ss203833672	Jul 04, 2010 (132)
33	BCM-HGSC-SUB	ss208598279	Jul 04, 2010 (132)
34	1000GENOMES	ss228261644	Jul 14, 2010 (132)
35	1000GENOMES	ss237766539	Jul 15, 2010 (132)
36	1000GENOMES	ss243952375	Jul 15, 2010 (132)
37	BL	ss255487213	May 09, 2011 (134)
38	GMI	ss283303706	May 04, 2012 (137)
39	GMI	ss287424050	Apr 25, 2013 (138)
40	PJP	ss292612592	May 09, 2011 (134)
41	ILLUMINA	ss480025073	May 04, 2012 (137)
42	ILLUMINA	ss480033884	May 04, 2012 (137)
43	ILLUMINA	ss480696921	Sep 08, 2015 (146)
44	ILLUMINA	ss484810726	May 04, 2012 (137)
45	ILLUMINA	ss536890936	Sep 08, 2015 (146)
46	TISHKOFF	ss566141525	Apr 25, 2013 (138)
47	SSMP	ss662013219	Apr 25, 2013 (138)
48	ILLUMINA	ss778437757	Sep 08, 2015 (146)
49	ILLUMINA	ss782851926	Sep 08, 2015 (146)
50	ILLUMINA	ss783816448	Sep 08, 2015 (146)
51	ILLUMINA	ss825410816	Apr 01, 2015 (144)
52	ILLUMINA	ss832105817	Sep 08, 2015 (146)
53	ILLUMINA	ss832795014	Jul 13, 2019 (153)
54	ILLUMINA	ss833893270	Sep 08, 2015 (146)
55	EVA-GONL	ss994548757	Aug 21, 2014 (142)
56	JMKIDD_LAB	ss1082080700	Aug 21, 2014 (142)
57	1000GENOMES	ss1364100391	Aug 21, 2014 (142)
58	DDI	ss1428998753	Apr 01, 2015 (144)
59	EVA_GENOME_DK	ss1579440961	Apr 01, 2015 (144)
60	EVA_UK10K_ALSPAC	ss1638432471	Apr 01, 2015 (144)
61	EVA_UK10K_TWINSUK	ss1681426504	Apr 01, 2015 (144)
62	EVA_DECODE	ss1698604996	Apr 01, 2015 (144)
63	EVA_SVP	ss1713680535	Apr 01, 2015 (144)
64	ILLUMINA	ss1752375885	Sep 08, 2015 (146)
65	HAMMER_LAB	ss1809426593	Sep 08, 2015 (146)
66	WEILL_CORNELL_DGM	ss1938058591	Feb 12, 2016 (147)
67	ILLUMINA	ss1946547378	Feb 12, 2016 (147)
68	ILLUMINA	ss1959899525	Feb 12, 2016 (147)
69	GENOMED	ss1969093317	Jul 19, 2016 (147)
70	JJLAB	ss2029809216	Sep 14, 2016 (149)
71	USC_VALOUEV	ss2158362749	Dec 20, 2016 (150)
72	HUMAN_LONGEVITY	ss2241401632	Dec 20, 2016 (150)
73	SYSTEMSBIOZJU	ss2629401481	Nov 08, 2017 (151)
74	ILLUMINA	ss2633778431	Nov 08, 2017 (151)
75	GRF	ss2704036465	Nov 08, 2017 (151)
76	ILLUMINA	ss2710935560	Nov 08, 2017 (151)
77	GNOMAD	ss2965530651	Nov 08, 2017 (151)
78	SWEGEN	ss3017881742	Nov 08, 2017 (151)
79	ILLUMINA	ss3022101785	Nov 08, 2017 (151)
80	BIOINF_KMB_FNS_UNIBA	ss3028737727	Nov 08, 2017 (151)
81	CSHL	ss3352423515	Nov 08, 2017 (151)
82	ILLUMINA	ss3625784622	Oct 12, 2018 (152)
83	ILLUMINA	ss3628353234	Oct 12, 2018 (152)
84	ILLUMINA	ss3631736110	Oct 12, 2018 (152)
85	ILLUMINA	ss3633244855	Oct 12, 2018 (152)
86	ILLUMINA	ss3633958666	Oct 12, 2018 (152)
87	ILLUMINA	ss3634827119	Oct 12, 2018 (152)
88	ILLUMINA	ss3635643870	Oct 12, 2018 (152)
89	ILLUMINA	ss3636517575	Oct 12, 2018 (152)
90	ILLUMINA	ss3637395942	Oct 12, 2018 (152)
91	ILLUMINA	ss3638335408	Oct 12, 2018 (152)
92	ILLUMINA	ss3639171460	Oct 12, 2018 (152)
93	ILLUMINA	ss3639599842	Oct 12, 2018 (152)
94	ILLUMINA	ss3640534417	Oct 12, 2018 (152)
95	ILLUMINA	ss3641125388	Oct 12, 2018 (152)
96	ILLUMINA	ss3641421574	Oct 12, 2018 (152)
97	ILLUMINA	ss3643298906	Oct 12, 2018 (152)
98	ILLUMINA	ss3644777737	Oct 12, 2018 (152)
99	URBANLAB	ss3650972994	Oct 12, 2018 (152)
100	ILLUMINA	ss3652556236	Oct 12, 2018 (152)
101	EGCUT_WGS	ss3684599664	Jul 13, 2019 (153)
102	EVA_DECODE	ss3706577160	Jul 13, 2019 (153)
103	ILLUMINA	ss3725900916	Jul 13, 2019 (153)
104	ACPOP	ss3743256804	Jul 13, 2019 (153)
105	ILLUMINA	ss3744195186	Jul 13, 2019 (153)
106	ILLUMINA	ss3745127024	Jul 13, 2019 (153)
107	EVA	ss3758433237	Jul 13, 2019 (153)
108	PAGE_CC	ss3772037239	Jul 13, 2019 (153)
109	ILLUMINA	ss3772623283	Jul 13, 2019 (153)
110	PACBIO	ss3788601896	Jul 13, 2019 (153)
111	PACBIO	ss3793501812	Jul 13, 2019 (153)
112	PACBIO	ss3798388956	Jul 13, 2019 (153)
113	KHV_HUMAN_GENOMES	ss3821606487	Jul 13, 2019 (153)
114	EVA	ss3835592577	Apr 27, 2020 (154)
115	EVA	ss3841421401	Apr 27, 2020 (154)
116	EVA	ss3846929143	Apr 27, 2020 (154)
117	HGDP	ss3847661294	Apr 27, 2020 (154)
118	SGDP_PRJ	ss3888750284	Apr 27, 2020 (154)
119	KRGDB	ss3938940902	Apr 27, 2020 (154)
120	KOGIC	ss3981839024	Apr 27, 2020 (154)
121	EVA	ss3984747210	Apr 27, 2021 (155)
122	EVA	ss3985868333	Apr 27, 2021 (155)
123	TOPMED	ss5082579255	Apr 27, 2021 (155)
124	TOMMO_GENOMICS	ss5228879281	Apr 27, 2021 (155)
125	1000G_HIGH_COVERAGE	ss5308115687	Oct 13, 2022 (156)
126	EVA	ss5315995574	Oct 13, 2022 (156)
127	EVA	ss5436318962	Oct 13, 2022 (156)
128	HUGCELL_USP	ss5500513920	Oct 13, 2022 (156)
129	EVA	ss5512157570	Oct 13, 2022 (156)
130	1000G_HIGH_COVERAGE	ss5614213666	Oct 13, 2022 (156)
131	SANFORD_IMAGENETICS	ss5624481002	Oct 13, 2022 (156)
132	SANFORD_IMAGENETICS	ss5662882558	Oct 13, 2022 (156)
133	TOMMO_GENOMICS	ss5787877742	Oct 13, 2022 (156)
134	EVA	ss5800016666	Oct 13, 2022 (156)
135	YY_MCH	ss5817824025	Oct 13, 2022 (156)
136	EVA	ss5845456787	Oct 13, 2022 (156)
137	EVA	ss5847502694	Oct 13, 2022 (156)
138	EVA	ss5853072986	Oct 13, 2022 (156)
139	EVA	ss5922711214	Oct 13, 2022 (156)
140	EVA	ss5957785608	Oct 13, 2022 (156)
141	EVA	ss5979610686	Oct 13, 2022 (156)
142	EVA	ss5981077023	Oct 13, 2022 (156)
143	1000Genomes	NC_000020.10 - 11590467	Oct 12, 2018 (152)
144	1000Genomes_30x	NC_000020.11 - 11609819	Oct 13, 2022 (156)
145	The Avon Longitudinal Study of Parents and Children	NC_000020.10 - 11590467	Oct 12, 2018 (152)
146	Genetic variation in the Estonian population	NC_000020.10 - 11590467	Oct 12, 2018 (152)
147	The Danish reference pan genome	NC_000020.10 - 11590467	Apr 27, 2020 (154)
148	gnomAD - Genomes Submission ignored due to conflicting rows: Row 546738345 (NC_000020.11:11609818:T:C 2/140190) Row 546738346 (NC_000020.11:11609818:T:G 111922/140166)	-	Apr 27, 2021 (155)
149	gnomAD - Genomes Submission ignored due to conflicting rows: Row 546738345 (NC_000020.11:11609818:T:C 2/140190) Row 546738346 (NC_000020.11:11609818:T:G 111922/140166)	-	Apr 27, 2021 (155)
150	Genome of the Netherlands Release 5	NC_000020.10 - 11590467	Apr 27, 2020 (154)
151	HGDP-CEPH-db Supplement 1	NC_000020.9 - 11538467	Apr 27, 2020 (154)
152	HapMap	NC_000020.11 - 11609819	Apr 27, 2020 (154)
153	KOREAN population from KRGDB	NC_000020.10 - 11590467	Apr 27, 2020 (154)
154	Korean Genome Project	NC_000020.11 - 11609819	Apr 27, 2020 (154)
155	Northern Sweden	NC_000020.10 - 11590467	Jul 13, 2019 (153)
156	The PAGE Study	NC_000020.11 - 11609819	Jul 13, 2019 (153)
157	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000020.10 - 11590467	Apr 27, 2021 (155)
158	CNV burdens in cranial meningiomas	NC_000020.10 - 11590467	Apr 27, 2021 (155)
159	Qatari	NC_000020.10 - 11590467	Apr 27, 2020 (154)
160	SGDP_PRJ	NC_000020.10 - 11590467	Apr 27, 2020 (154)
161	Siberian	NC_000020.10 - 11590467	Apr 27, 2020 (154)
162	8.3KJPN	NC_000020.10 - 11590467	Apr 27, 2021 (155)
163	14KJPN	NC_000020.11 - 11609819	Oct 13, 2022 (156)
164	TopMed	NC_000020.11 - 11609819	Apr 27, 2021 (155)
165	UK 10K study - Twins	NC_000020.10 - 11590467	Oct 12, 2018 (152)
166	A Vietnamese Genetic Variation Database	NC_000020.10 - 11590467	Jul 13, 2019 (153)
167	ALFA	NC_000020.11 - 11609819	Apr 27, 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)
rs61665396	May 27, 2008 (130)
rs386536714	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
46118296, ss3938940902	NC_000020.10:11590466:T:A	NC_000020.11:11609818:T:A	(self)
ss2965530651	NC_000020.10:11590466:T:C	NC_000020.11:11609818:T:C	(self)
9517037779	NC_000020.11:11609818:T:C	NC_000020.11:11609818:T:C	(self)
339186, ss77265125, ss82539172, ss91640836, ss111737062, ss113095455, ss160369875, ss167825710, ss169106348, ss203833672, ss208598279, ss255487213, ss283303706, ss287424050, ss292612592, ss480025073, ss825410816, ss1698604996, ss1713680535, ss3639171460, ss3639599842, ss3643298906, ss3847661294	NC_000020.9:11538466:T:G	NC_000020.11:11609818:T:G	(self)
77541143, 42926864, 30337912, 5605900, 19126718, 46118296, 16541669, 1094260, 296777, 20100513, 40767264, 10879103, 86848588, 42926864, 9477254, ss228261644, ss237766539, ss243952375, ss480033884, ss480696921, ss484810726, ss536890936, ss566141525, ss662013219, ss778437757, ss782851926, ss783816448, ss832105817, ss832795014, ss833893270, ss994548757, ss1082080700, ss1364100391, ss1428998753, ss1579440961, ss1638432471, ss1681426504, ss1752375885, ss1809426593, ss1938058591, ss1946547378, ss1959899525, ss1969093317, ss2029809216, ss2158362749, ss2629401481, ss2633778431, ss2704036465, ss2710935560, ss2965530651, ss3017881742, ss3022101785, ss3352423515, ss3625784622, ss3628353234, ss3631736110, ss3633244855, ss3633958666, ss3634827119, ss3635643870, ss3636517575, ss3637395942, ss3638335408, ss3640534417, ss3641125388, ss3641421574, ss3644777737, ss3652556236, ss3684599664, ss3743256804, ss3744195186, ss3745127024, ss3758433237, ss3772623283, ss3788601896, ss3793501812, ss3798388956, ss3835592577, ss3841421401, ss3888750284, ss3938940902, ss3984747210, ss3985868333, ss5228879281, ss5315995574, ss5436318962, ss5512157570, ss5624481002, ss5662882558, ss5800016666, ss5845456787, ss5847502694, ss5957785608, ss5979610686, ss5981077023	NC_000020.10:11590466:T:G	NC_000020.11:11609818:T:G	(self)
101739601, 2073730, 38217025, 1258708, 121714846, 357688200, 9517037779, ss2241401632, ss3028737727, ss3650972994, ss3706577160, ss3725900916, ss3772037239, ss3821606487, ss3846929143, ss3981839024, ss5082579255, ss5308115687, ss5500513920, ss5614213666, ss5787877742, ss5817824025, ss5853072986, ss5922711214	NC_000020.11:11609818:T:G	NC_000020.11:11609818:T:G	(self)
ss2385492, ss8339528, ss16899725, ss17698951, ss21757054, ss44228060, ss66576949, ss67129478, ss67468930, ss70441832, ss70630679, ss71180663, ss74933501, ss83826382, ss106179414, ss121744290, ss135766137, ss138211434, ss153504315, ss156175124, ss159282881, ss170629689, ss172569983	NT_011387.8:11530466:T:G	NC_000020.11:11609818: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 rs1543427

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
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1543427