Name: rs2327290
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.

rs2327290

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr20:10366770 (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>A / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.338792 (106887/315494, ALFA)
A=0.424089 (112252/264690, TOPMED)
A=0.334105 (68517/205076, GENOGRAPHIC) (+ 24 more)
A=0.421622 (58974/139874, GnomAD)
A=0.47115 (37033/78602, PAGE_STUDY)
A=0.32154 (9086/28258, 14KJPN)
A=0.32035 (5369/16760, 8.3KJPN)
A=0.4176 (2674/6404, 1000G_30x)
A=0.4109 (2058/5008, 1000G)
A=0.3375 (1512/4480, Estonian)
A=0.3435 (1324/3854, ALSPAC)
A=0.3255 (1207/3708, TWINSUK)
A=0.2911 (853/2930, KOREAN)
A=0.3541 (738/2084, HGDP_Stanford)
A=0.4458 (839/1882, HapMap)
A=0.2920 (535/1832, Korea1K)
A=0.3019 (343/1136, Daghestan)
A=0.308 (307/998, GoNL)
A=0.263 (208/790, PRJEB37584)
A=0.283 (177/626, Chileans)
A=0.365 (219/600, NorthernSweden)
C=0.346 (106/306, SGDP_PRJ)
A=0.444 (96/216, Qatari)
A=0.292 (63/216, Vietnamese)
A=0.434 (46/106, Ancient Sardinia)
A=0.23 (9/40, GENOME_DK)
C=0.35 (7/20, 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	320622	C=0.660114	A=0.339886
European	Sub	277784	C=0.672044	A=0.327956
African	Sub	12386	C=0.35750	A=0.64250
African Others	Sub	466	C=0.268	A=0.732
African American	Sub	11920	C=0.36099	A=0.63901
Asian	Sub	3970	C=0.7045	A=0.2955
East Asian	Sub	3198	C=0.6961	A=0.3039
Other Asian	Sub	772	C=0.740	A=0.260
Latin American 1	Sub	1278	C=0.6205	A=0.3795
Latin American 2	Sub	9354	C=0.7109	A=0.2891
South Asian	Sub	5238	C=0.6331	A=0.3669
Other	Sub	10612	C=0.65775	A=0.34225

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
Allele Frequency Aggregator	Total	Global	315494	C=0.661208	A=0.338792
Allele Frequency Aggregator	European	Sub	274614	C=0.672045	A=0.327955
Allele Frequency Aggregator	African	Sub	11246	C=0.35835	A=0.64165
Allele Frequency Aggregator	Other	Sub	9794	C=0.6604	A=0.3396
Allele Frequency Aggregator	Latin American 2	Sub	9354	C=0.7109	A=0.2891
Allele Frequency Aggregator	South Asian	Sub	5238	C=0.6331	A=0.3669
Allele Frequency Aggregator	Asian	Sub	3970	C=0.7045	A=0.2955
Allele Frequency Aggregator	Latin American 1	Sub	1278	C=0.6205	A=0.3795
TopMed	Global	Study-wide	264690	C=0.575911	A=0.424089
Genographic Project	Global	Study-wide	205076	C=0.665895	A=0.334105
gnomAD - Genomes	Global	Study-wide	139874	C=0.578378	A=0.421622
gnomAD - Genomes	European	Sub	75790	C=0.67510	A=0.32490
gnomAD - Genomes	African	Sub	41868	C=0.36730	A=0.63270
gnomAD - Genomes	American	Sub	13626	C=0.63232	A=0.36768
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	C=0.6902	A=0.3098
gnomAD - Genomes	East Asian	Sub	3122	C=0.7050	A=0.2950
gnomAD - Genomes	Other	Sub	2150	C=0.5809	A=0.4191
The PAGE Study	Global	Study-wide	78602	C=0.52885	A=0.47115
The PAGE Study	AfricanAmerican	Sub	32450	C=0.36924	A=0.63076
The PAGE Study	Mexican	Sub	10804	C=0.72010	A=0.27990
The PAGE Study	Asian	Sub	8310	C=0.6792	A=0.3208
The PAGE Study	PuertoRican	Sub	7914	C=0.5608	A=0.4392
The PAGE Study	NativeHawaiian	Sub	4526	C=0.6615	A=0.3385
The PAGE Study	Cuban	Sub	4228	C=0.5977	A=0.4023
The PAGE Study	Dominican	Sub	3826	C=0.5094	A=0.4906
The PAGE Study	CentralAmerican	Sub	2448	C=0.6634	A=0.3366
The PAGE Study	SouthAmerican	Sub	1982	C=0.6498	A=0.3502
The PAGE Study	NativeAmerican	Sub	1260	C=0.6556	A=0.3444
The PAGE Study	SouthAsian	Sub	854	C=0.605	A=0.395
14KJPN	JAPANESE	Study-wide	28258	C=0.67846	A=0.32154
8.3KJPN	JAPANESE	Study-wide	16760	C=0.67965	A=0.32035
1000Genomes_30x	Global	Study-wide	6404	C=0.5824	A=0.4176
1000Genomes_30x	African	Sub	1786	C=0.3219	A=0.6781
1000Genomes_30x	Europe	Sub	1266	C=0.7046	A=0.2954
1000Genomes_30x	South Asian	Sub	1202	C=0.6431	A=0.3569
1000Genomes_30x	East Asian	Sub	1170	C=0.7085	A=0.2915
1000Genomes_30x	American	Sub	980	C=0.674	A=0.326
1000Genomes	Global	Study-wide	5008	C=0.5891	A=0.4109
1000Genomes	African	Sub	1322	C=0.3253	A=0.6747
1000Genomes	East Asian	Sub	1008	C=0.6984	A=0.3016
1000Genomes	Europe	Sub	1006	C=0.7187	A=0.2813
1000Genomes	South Asian	Sub	978	C=0.638	A=0.362
1000Genomes	American	Sub	694	C=0.676	A=0.324
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.6625	A=0.3375
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.6565	A=0.3435
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.6745	A=0.3255
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.7085	A=0.2911, T=0.0003
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	C=0.6459	A=0.3541
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.713	A=0.287
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.647	A=0.353
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.603	A=0.397
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.662	A=0.338
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.339	A=0.661
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.875	A=0.125
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.68	A=0.32
HapMap	Global	Study-wide	1882	C=0.5542	A=0.4458
HapMap	American	Sub	762	C=0.626	A=0.374
HapMap	African	Sub	690	C=0.374	A=0.626
HapMap	Asian	Sub	254	C=0.689	A=0.311
HapMap	Europe	Sub	176	C=0.756	A=0.244
Korean Genome Project	KOREAN	Study-wide	1832	C=0.7080	A=0.2920
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	C=0.6981	A=0.3019
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	C=0.723	A=0.277
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	C=0.653	A=0.347
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	C=0.721	A=0.279
Genome-wide autozygosity in Daghestan	Europe	Sub	108	C=0.685	A=0.315
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	C=0.59	A=0.41
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	C=0.69	A=0.31
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.692	A=0.308
CNV burdens in cranial meningiomas	Global	Study-wide	790	C=0.737	A=0.263
CNV burdens in cranial meningiomas	CRM	Sub	790	C=0.737	A=0.263
Chileans	Chilean	Study-wide	626	C=0.717	A=0.283
Northern Sweden	ACPOP	Study-wide	600	C=0.635	A=0.365
SGDP_PRJ	Global	Study-wide	306	C=0.346	A=0.654
Qatari	Global	Study-wide	216	C=0.556	A=0.444
A Vietnamese Genetic Variation Database	Global	Study-wide	216	C=0.708	A=0.292
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	106	C=0.566	A=0.434
The Danish reference pan genome	Danish	Study-wide	40	C=0.78	A=0.23
Siberian	Global	Study-wide	20	C=0.35	A=0.65

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.10366770C>A
GRCh38.p14 chr 20	NC_000020.11:g.10366770C>T
GRCh37.p13 chr 20	NC_000020.10:g.10347418C>A
GRCh37.p13 chr 20	NC_000020.10:g.10347418C>T

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=	A	T
GRCh38.p14 chr 20	NC_000020.11:g.10366770=	NC_000020.11:g.10366770C>A	NC_000020.11:g.10366770C>T
GRCh37.p13 chr 20	NC_000020.10:g.10347418=	NC_000020.10:g.10347418C>A	NC_000020.10:g.10347418C>T

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#.

149 SubSNP, 27 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss3278047	Sep 28, 2001 (100)
2	SC_JCM	ss5814474	Feb 20, 2003 (111)
3	SC_SNP	ss8348546	Apr 21, 2003 (114)
4	WI_SSAHASNP	ss12478649	Jul 11, 2003 (116)
5	SSAHASNP	ss21787640	Apr 05, 2004 (121)
6	PERLEGEN	ss23587374	Sep 20, 2004 (123)
7	ABI	ss44230037	Mar 13, 2006 (126)
8	AFFY	ss66486762	Dec 01, 2006 (127)
9	ILLUMINA	ss66612975	Dec 01, 2006 (127)
10	ILLUMINA	ss67246769	Dec 01, 2006 (127)
11	ILLUMINA	ss67643942	Dec 01, 2006 (127)
12	CSHL-HAPMAP	ss68412377	Jan 12, 2007 (127)
13	PERLEGEN	ss69235875	May 17, 2007 (127)
14	ILLUMINA	ss70725102	May 26, 2008 (130)
15	ILLUMINA	ss71293853	May 17, 2007 (127)
16	ILLUMINA	ss75459999	Dec 06, 2007 (129)
17	AFFY	ss76308019	Dec 06, 2007 (129)
18	ILLUMINA	ss79129956	Dec 16, 2007 (130)
19	KRIBB_YJKIM	ss84035057	Dec 16, 2007 (130)
20	HGSV	ss84595220	Dec 16, 2007 (130)
21	HUMANGENOME_JCVI	ss96214980	Feb 06, 2009 (130)
22	BGI	ss103727191	Feb 23, 2009 (131)
23	1000GENOMES	ss113083526	Jan 25, 2009 (130)
24	ILLUMINA-UK	ss117484370	Dec 01, 2009 (131)
25	ILLUMINA	ss122005434	Dec 01, 2009 (131)
26	ENSEMBL	ss135768237	Dec 01, 2009 (131)
27	ILLUMINA	ss153904222	Dec 01, 2009 (131)
28	ILLUMINA	ss159382058	Dec 01, 2009 (131)
29	ILLUMINA	ss160536746	Dec 01, 2009 (131)
30	COMPLETE_GENOMICS	ss169081686	Jul 04, 2010 (132)
31	ILLUMINA	ss171199295	Jul 04, 2010 (132)
32	COMPLETE_GENOMICS	ss171897552	Jul 04, 2010 (132)
33	AFFY	ss173207186	Jul 04, 2010 (132)
34	ILLUMINA	ss173291690	Jul 04, 2010 (132)
35	BUSHMAN	ss203830590	Jul 04, 2010 (132)
36	BCM-HGSC-SUB	ss208708768	Jul 04, 2010 (132)
37	ILLUMINA	ss209088152	Jul 04, 2010 (132)
38	1000GENOMES	ss228256619	Jul 14, 2010 (132)
39	1000GENOMES	ss237762642	Jul 15, 2010 (132)
40	1000GENOMES	ss243949194	Jul 15, 2010 (132)
41	GMI	ss283300004	May 04, 2012 (137)
42	GMI	ss287422646	Apr 25, 2013 (138)
43	PJP	ss292610488	May 09, 2011 (134)
44	ILLUMINA	ss480532585	May 04, 2012 (137)
45	ILLUMINA	ss480548973	May 04, 2012 (137)
46	ILLUMINA	ss481361365	Sep 08, 2015 (146)
47	ILLUMINA	ss485063395	May 04, 2012 (137)
48	ILLUMINA	ss537078163	Sep 08, 2015 (146)
49	TISHKOFF	ss566135866	Apr 25, 2013 (138)
50	SSMP	ss662006856	Apr 25, 2013 (138)
51	ILLUMINA	ss778492493	Sep 08, 2015 (146)
52	ILLUMINA	ss782977944	Sep 08, 2015 (146)
53	ILLUMINA	ss783939024	Sep 08, 2015 (146)
54	ILLUMINA	ss825460474	Apr 01, 2015 (144)
55	ILLUMINA	ss832234436	Sep 08, 2015 (146)
56	ILLUMINA	ss832893837	Jul 13, 2019 (153)
57	ILLUMINA	ss833948511	Sep 08, 2015 (146)
58	EVA-GONL	ss994538890	Aug 21, 2014 (142)
59	JMKIDD_LAB	ss1082073283	Aug 21, 2014 (142)
60	1000GENOMES	ss1364064885	Aug 21, 2014 (142)
61	HAMMER_LAB	ss1397763886	Sep 08, 2015 (146)
62	DDI	ss1428995755	Apr 01, 2015 (144)
63	EVA_GENOME_DK	ss1579437068	Apr 01, 2015 (144)
64	EVA_UK10K_ALSPAC	ss1638412487	Apr 01, 2015 (144)
65	EVA_UK10K_TWINSUK	ss1681406520	Apr 01, 2015 (144)
66	EVA_DECODE	ss1698594873	Apr 01, 2015 (144)
67	EVA_SVP	ss1713679739	Apr 01, 2015 (144)
68	ILLUMINA	ss1752375387	Sep 08, 2015 (146)
69	HAMMER_LAB	ss1809422612	Sep 08, 2015 (146)
70	WEILL_CORNELL_DGM	ss1938049373	Feb 12, 2016 (147)
71	ILLUMINA	ss1946547142	Feb 12, 2016 (147)
72	ILLUMINA	ss1959898804	Feb 12, 2016 (147)
73	GENOMED	ss1969090886	Jul 19, 2016 (147)
74	JJLAB	ss2029803968	Sep 14, 2016 (149)
75	USC_VALOUEV	ss2158357674	Dec 20, 2016 (150)
76	HUMAN_LONGEVITY	ss2241327180	Dec 20, 2016 (150)
77	SYSTEMSBIOZJU	ss2629399091	Nov 08, 2017 (151)
78	ILLUMINA	ss2633777316	Nov 08, 2017 (151)
79	GRF	ss2704030958	Nov 08, 2017 (151)
80	ILLUMINA	ss2710935312	Nov 08, 2017 (151)
81	GNOMAD	ss2965432826	Nov 08, 2017 (151)
82	AFFY	ss2985830555	Nov 08, 2017 (151)
83	SWEGEN	ss3017867856	Nov 08, 2017 (151)
84	ILLUMINA	ss3022100975	Nov 08, 2017 (151)
85	BIOINF_KMB_FNS_UNIBA	ss3028734973	Nov 08, 2017 (151)
86	CSHL	ss3352419270	Nov 08, 2017 (151)
87	ILLUMINA	ss3625784401	Oct 12, 2018 (152)
88	ILLUMINA	ss3628351249	Oct 12, 2018 (152)
89	ILLUMINA	ss3631735077	Oct 12, 2018 (152)
90	ILLUMINA	ss3633244470	Oct 12, 2018 (152)
91	ILLUMINA	ss3633958270	Oct 12, 2018 (152)
92	ILLUMINA	ss3634826681	Oct 12, 2018 (152)
93	ILLUMINA	ss3635643481	Oct 12, 2018 (152)
94	ILLUMINA	ss3636517104	Oct 12, 2018 (152)
95	ILLUMINA	ss3637395554	Oct 12, 2018 (152)
96	ILLUMINA	ss3638334878	Oct 12, 2018 (152)
97	ILLUMINA	ss3639171158	Oct 12, 2018 (152)
98	ILLUMINA	ss3639599666	Oct 12, 2018 (152)
99	ILLUMINA	ss3640533979	Oct 12, 2018 (152)
100	ILLUMINA	ss3643298416	Oct 12, 2018 (152)
101	ILLUMINA	ss3644777493	Oct 12, 2018 (152)
102	URBANLAB	ss3650971337	Oct 12, 2018 (152)
103	ILLUMINA	ss3652555392	Oct 12, 2018 (152)
104	ILLUMINA	ss3653978174	Oct 12, 2018 (152)
105	EGCUT_WGS	ss3684584932	Jul 13, 2019 (153)
106	EVA_DECODE	ss3706559659	Jul 13, 2019 (153)
107	ILLUMINA	ss3725900144	Jul 13, 2019 (153)
108	ACPOP	ss3743248861	Jul 13, 2019 (153)
109	ILLUMINA	ss3744195000	Jul 13, 2019 (153)
110	ILLUMINA	ss3745126581	Jul 13, 2019 (153)
111	EVA	ss3758421684	Jul 13, 2019 (153)
112	PAGE_CC	ss3772036641	Jul 13, 2019 (153)
113	ILLUMINA	ss3772622847	Jul 13, 2019 (153)
114	PACBIO	ss3788599573	Jul 13, 2019 (153)
115	PACBIO	ss3793499859	Jul 13, 2019 (153)
116	PACBIO	ss3798387004	Jul 13, 2019 (153)
117	KHV_HUMAN_GENOMES	ss3821595474	Jul 13, 2019 (153)
118	EVA	ss3835587968	Apr 27, 2020 (154)
119	EVA	ss3841418850	Apr 27, 2020 (154)
120	EVA	ss3846926556	Apr 27, 2020 (154)
121	HGDP	ss3847660931	Apr 27, 2020 (154)
122	SGDP_PRJ	ss3888732453	Apr 27, 2020 (154)
123	KRGDB	ss3938921268	Apr 27, 2020 (154)
124	KOGIC	ss3981822971	Apr 27, 2020 (154)
125	EVA	ss3984747018	Apr 27, 2021 (155)
126	EVA	ss3985867608	Apr 27, 2021 (155)
127	EVA	ss4017837862	Apr 27, 2021 (155)
128	TOPMED	ss5082264636	Apr 27, 2021 (155)
129	TOMMO_GENOMICS	ss5228840561	Apr 27, 2021 (155)
130	EVA	ss5237602133	Apr 27, 2021 (155)
131	1000G_HIGH_COVERAGE	ss5308085957	Oct 13, 2022 (156)
132	GENOGRAPHIC	ss5314579797	Oct 13, 2022 (156)
133	EVA	ss5315994820	Oct 13, 2022 (156)
134	EVA	ss5436261401	Oct 13, 2022 (156)
135	HUGCELL_USP	ss5500486419	Oct 13, 2022 (156)
136	1000G_HIGH_COVERAGE	ss5614167186	Oct 13, 2022 (156)
137	SANFORD_IMAGENETICS	ss5624480709	Oct 13, 2022 (156)
138	SANFORD_IMAGENETICS	ss5662865314	Oct 13, 2022 (156)
139	TOMMO_GENOMICS	ss5787828711	Oct 13, 2022 (156)
140	EVA	ss5800016325	Oct 13, 2022 (156)
141	YY_MCH	ss5817816248	Oct 13, 2022 (156)
142	EVA	ss5845444403	Oct 13, 2022 (156)
143	EVA	ss5847502477	Oct 13, 2022 (156)
144	EVA	ss5847914424	Oct 13, 2022 (156)
145	EVA	ss5853068953	Oct 13, 2022 (156)
146	EVA	ss5922674914	Oct 13, 2022 (156)
147	EVA	ss5957766786	Oct 13, 2022 (156)
148	EVA	ss5979610327	Oct 13, 2022 (156)
149	EVA	ss5981076614	Oct 13, 2022 (156)
150	1000Genomes	NC_000020.10 - 10347418	Oct 12, 2018 (152)
151	1000Genomes_30x	NC_000020.11 - 10366770	Oct 13, 2022 (156)
152	The Avon Longitudinal Study of Parents and Children	NC_000020.10 - 10347418	Oct 12, 2018 (152)
153	Chileans	NC_000020.10 - 10347418	Apr 27, 2020 (154)
154	Genome-wide autozygosity in Daghestan	NC_000020.9 - 10295418	Apr 27, 2020 (154)
155	Genetic variation in the Estonian population	NC_000020.10 - 10347418	Oct 12, 2018 (152)
156	Genographic Project	NC_000020.11 - 10366770	Oct 13, 2022 (156)
157	The Danish reference pan genome	NC_000020.10 - 10347418	Apr 27, 2020 (154)
158	gnomAD - Genomes	NC_000020.11 - 10366770	Apr 27, 2021 (155)
159	Genome of the Netherlands Release 5	NC_000020.10 - 10347418	Apr 27, 2020 (154)
160	HGDP-CEPH-db Supplement 1	NC_000020.9 - 10295418	Apr 27, 2020 (154)
161	HapMap	NC_000020.11 - 10366770	Apr 27, 2020 (154)
162	KOREAN population from KRGDB	NC_000020.10 - 10347418	Apr 27, 2020 (154)
163	Korean Genome Project	NC_000020.11 - 10366770	Apr 27, 2020 (154)
164	Northern Sweden	NC_000020.10 - 10347418	Jul 13, 2019 (153)
165	The PAGE Study	NC_000020.11 - 10366770	Jul 13, 2019 (153)
166	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000020.10 - 10347418	Apr 27, 2021 (155)
167	CNV burdens in cranial meningiomas	NC_000020.10 - 10347418	Apr 27, 2021 (155)
168	Qatari	NC_000020.10 - 10347418	Apr 27, 2020 (154)
169	SGDP_PRJ	NC_000020.10 - 10347418	Apr 27, 2020 (154)
170	Siberian	NC_000020.10 - 10347418	Apr 27, 2020 (154)
171	8.3KJPN	NC_000020.10 - 10347418	Apr 27, 2021 (155)
172	14KJPN	NC_000020.11 - 10366770	Oct 13, 2022 (156)
173	TopMed	NC_000020.11 - 10366770	Apr 27, 2021 (155)
174	UK 10K study - Twins	NC_000020.10 - 10347418	Oct 12, 2018 (152)
175	A Vietnamese Genetic Variation Database	NC_000020.10 - 10347418	Jul 13, 2019 (153)
176	ALFA	NC_000020.11 - 10366770	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)
rs61441918	May 26, 2008 (130)
rs74270298	Dec 02, 2009 (131)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
278066, 338823, ss84595220, ss113083526, ss117484370, ss169081686, ss171897552, ss203830590, ss208708768, ss283300004, ss287422646, ss292610488, ss480532585, ss825460474, ss1397763886, ss1698594873, ss1713679739, ss3639171158, ss3639599666, ss3643298416, ss3847660931	NC_000020.9:10295417:C:A	NC_000020.11:10366769:C:A	(self)
77504372, 42905035, 250121, 30323180, 5602007, 19117004, 46098662, 16533726, 1093535, 296585, 20091295, 40749433, 10874028, 86809868, 42905035, 9472099, ss228256619, ss237762642, ss243949194, ss480548973, ss481361365, ss485063395, ss537078163, ss566135866, ss662006856, ss778492493, ss782977944, ss783939024, ss832234436, ss832893837, ss833948511, ss994538890, ss1082073283, ss1364064885, ss1428995755, ss1579437068, ss1638412487, ss1681406520, ss1752375387, ss1809422612, ss1938049373, ss1946547142, ss1959898804, ss1969090886, ss2029803968, ss2158357674, ss2629399091, ss2633777316, ss2704030958, ss2710935312, ss2965432826, ss2985830555, ss3017867856, ss3022100975, ss3352419270, ss3625784401, ss3628351249, ss3631735077, ss3633244470, ss3633958270, ss3634826681, ss3635643481, ss3636517104, ss3637395554, ss3638334878, ss3640533979, ss3644777493, ss3652555392, ss3653978174, ss3684584932, ss3743248861, ss3744195000, ss3745126581, ss3758421684, ss3772622847, ss3788599573, ss3793499859, ss3798387004, ss3835587968, ss3841418850, ss3888732453, ss3938921268, ss3984747018, ss3985867608, ss4017837862, ss5228840561, ss5237602133, ss5315994820, ss5436261401, ss5624480709, ss5662865314, ss5800016325, ss5845444403, ss5847502477, ss5847914424, ss5957766786, ss5979610327, ss5981076614	NC_000020.10:10347417:C:A	NC_000020.11:10366769:C:A	(self)
101693121, 106487, 546483477, 2070720, 38200972, 1258110, 121665815, 357373581, 3417934526, ss2241327180, ss3028734973, ss3650971337, ss3706559659, ss3725900144, ss3772036641, ss3821595474, ss3846926556, ss3981822971, ss5082264636, ss5308085957, ss5314579797, ss5500486419, ss5614167186, ss5787828711, ss5817816248, ss5853068953, ss5922674914	NC_000020.11:10366769:C:A	NC_000020.11:10366769:C:A	(self)
ss3278047, ss5814474, ss8348546, ss12478649, ss21787640, ss23587374, ss44230037, ss66486762, ss66612975, ss67246769, ss67643942, ss68412377, ss69235875, ss70725102, ss71293853, ss75459999, ss76308019, ss79129956, ss84035057, ss96214980, ss103727191, ss122005434, ss135768237, ss153904222, ss159382058, ss160536746, ss171199295, ss173207186, ss173291690, ss209088152	NT_011387.8:10287417:C:A	NC_000020.11:10366769:C:A	(self)
46098662, ss3938921268	NC_000020.10:10347417:C:T	NC_000020.11:10366769:C:T	(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 rs2327290

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).
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

rs2327290