Name: rs2587695
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.

rs2587695

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:119564241 (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: A>C / A>G / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.481379 (162550/337676, ALFA)
A=0.421334 (111523/264690, TOPMED)
A=0.416669 (58307/139936, GnomAD) (+ 20 more)
A=0.37253 (29319/78702, PAGE_STUDY)
A=0.22820 (6448/28256, 14KJPN)
A=0.23037 (3861/16760, 8.3KJPN)
A=0.3623 (2320/6404, 1000G_30x)
A=0.3572 (1789/5008, 1000G)
A=0.4239 (1899/4480, Estonian)
A=0.4933 (1901/3854, ALSPAC)
G=0.4962 (1840/3708, TWINSUK)
A=0.2375 (696/2930, KOREAN)
A=0.3978 (829/2084, HGDP_Stanford)
A=0.3573 (676/1892, HapMap)
A=0.461 (460/998, GoNL)
A=0.260 (204/786, PRJEB37584)
A=0.482 (289/600, NorthernSweden)
A=0.238 (107/450, SGDP_PRJ)
A=0.356 (77/216, Qatari)
A=0.336 (72/214, Vietnamese)
A=0.33 (26/80, Ancient Sardinia)
A=0.17 (8/46, Siberian)
G=0.42 (17/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CFAP221 : Intron Variant
Publications: 1 citation
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	337892	A=0.481352	G=0.518648
European	Sub	286716	A=0.497778	G=0.502222
African	Sub	11784	A=0.32417	G=0.67583
African Others	Sub	414	A=0.278	G=0.722
African American	Sub	11370	A=0.32586	G=0.67414
Asian	Sub	6924	A=0.2737	G=0.7263
East Asian	Sub	4956	A=0.2639	G=0.7361
Other Asian	Sub	1968	A=0.2983	G=0.7017
Latin American 1	Sub	1280	A=0.4203	G=0.5797
Latin American 2	Sub	9378	A=0.4251	G=0.5749
South Asian	Sub	5238	A=0.4536	G=0.5464
Other	Sub	16572	A=0.44098	G=0.55902

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	337676	A=0.481379	G=0.518621
Allele Frequency Aggregator	European	Sub	286536	A=0.497798	G=0.502202
Allele Frequency Aggregator	Other	Sub	16550	A=0.44115	G=0.55885
Allele Frequency Aggregator	African	Sub	11770	A=0.32421	G=0.67579
Allele Frequency Aggregator	Latin American 2	Sub	9378	A=0.4251	G=0.5749
Allele Frequency Aggregator	Asian	Sub	6924	A=0.2737	G=0.7263
Allele Frequency Aggregator	South Asian	Sub	5238	A=0.4536	G=0.5464
Allele Frequency Aggregator	Latin American 1	Sub	1280	A=0.4203	G=0.5797
TopMed	Global	Study-wide	264690	A=0.421334	G=0.578666
gnomAD - Genomes	Global	Study-wide	139936	A=0.416669	G=0.583331
gnomAD - Genomes	European	Sub	75804	A=0.46437	G=0.53563
gnomAD - Genomes	African	Sub	41900	A=0.31928	G=0.68072
gnomAD - Genomes	American	Sub	13642	A=0.44986	G=0.55014
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	A=0.5530	G=0.4470
gnomAD - Genomes	East Asian	Sub	3116	A=0.2657	G=0.7343
gnomAD - Genomes	Other	Sub	2152	A=0.4303	G=0.5697
The PAGE Study	Global	Study-wide	78702	A=0.37253	G=0.62747
The PAGE Study	AfricanAmerican	Sub	32516	A=0.32344	G=0.67656
The PAGE Study	Mexican	Sub	10810	A=0.43858	G=0.56142
The PAGE Study	Asian	Sub	8318	A=0.2421	G=0.7579
The PAGE Study	PuertoRican	Sub	7918	A=0.4265	G=0.5735
The PAGE Study	NativeHawaiian	Sub	4534	A=0.5397	G=0.4603
The PAGE Study	Cuban	Sub	4230	A=0.4610	G=0.5390
The PAGE Study	Dominican	Sub	3828	A=0.3921	G=0.6079
The PAGE Study	CentralAmerican	Sub	2450	A=0.4306	G=0.5694
The PAGE Study	SouthAmerican	Sub	1982	A=0.4001	G=0.5999
The PAGE Study	NativeAmerican	Sub	1260	A=0.4198	G=0.5802
The PAGE Study	SouthAsian	Sub	856	A=0.461	G=0.539
14KJPN	JAPANESE	Study-wide	28256	A=0.22820	G=0.77180
8.3KJPN	JAPANESE	Study-wide	16760	A=0.23037	G=0.76963
1000Genomes_30x	Global	Study-wide	6404	A=0.3623	G=0.6377
1000Genomes_30x	African	Sub	1786	A=0.2906	G=0.7094
1000Genomes_30x	Europe	Sub	1266	A=0.4818	G=0.5182
1000Genomes_30x	South Asian	Sub	1202	A=0.3902	G=0.6098
1000Genomes_30x	East Asian	Sub	1170	A=0.2769	G=0.7231
1000Genomes_30x	American	Sub	980	A=0.406	G=0.594
1000Genomes	Global	Study-wide	5008	A=0.3572	G=0.6428
1000Genomes	African	Sub	1322	A=0.2912	G=0.7088
1000Genomes	East Asian	Sub	1008	A=0.2718	G=0.7282
1000Genomes	Europe	Sub	1006	A=0.4622	G=0.5378
1000Genomes	South Asian	Sub	978	A=0.391	G=0.609
1000Genomes	American	Sub	694	A=0.408	G=0.592
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.4239	G=0.5761
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.4933	G=0.5067
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.5038	G=0.4962
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.2375	C=0.0000, G=0.7625, T=0.0000
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	A=0.3978	G=0.6022
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	A=0.234	G=0.766
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	A=0.432	G=0.568
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	A=0.534	G=0.466
HGDP-CEPH-db Supplement 1	Europe	Sub	320	A=0.528	G=0.472
HGDP-CEPH-db Supplement 1	Africa	Sub	242	A=0.293	G=0.707
HGDP-CEPH-db Supplement 1	America	Sub	216	A=0.310	G=0.690
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	A=0.64	G=0.36
HapMap	Global	Study-wide	1892	A=0.3573	G=0.6427
HapMap	American	Sub	770	A=0.391	G=0.609
HapMap	African	Sub	692	A=0.316	G=0.684
HapMap	Asian	Sub	254	A=0.252	G=0.748
HapMap	Europe	Sub	176	A=0.523	G=0.477
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.461	G=0.539
CNV burdens in cranial meningiomas	Global	Study-wide	786	A=0.260	G=0.740
CNV burdens in cranial meningiomas	CRM	Sub	786	A=0.260	G=0.740
Northern Sweden	ACPOP	Study-wide	600	A=0.482	G=0.518
SGDP_PRJ	Global	Study-wide	450	A=0.238	G=0.762
Qatari	Global	Study-wide	216	A=0.356	G=0.644
A Vietnamese Genetic Variation Database	Global	Study-wide	214	A=0.336	G=0.664
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	80	A=0.33	G=0.68
Siberian	Global	Study-wide	46	A=0.17	G=0.83
The Danish reference pan genome	Danish	Study-wide	40	A=0.57	G=0.42

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 2	NC_000002.12:g.119564241A>C
GRCh38.p14 chr 2	NC_000002.12:g.119564241A>G
GRCh38.p14 chr 2	NC_000002.12:g.119564241A>T
GRCh37.p13 chr 2	NC_000002.11:g.120321817A>C
GRCh37.p13 chr 2	NC_000002.11:g.120321817A>G
GRCh37.p13 chr 2	NC_000002.11:g.120321817A>T

Gene: CFAP221, cilia and flagella associated protein 221 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CFAP221 transcript variant 1	NM_001271049.2:c.527+2127… NM_001271049.2:c.527+2127A>C	N/A	Intron Variant
CFAP221 transcript variant 2	NR_073132.2:n.	N/A	Intron Variant
CFAP221 transcript variant 3	NR_073133.2:n.	N/A	Intron Variant
CFAP221 transcript variant X5	XM_006712353.4:c.527+2127… XM_006712353.4:c.527+2127A>C	N/A	Intron Variant
CFAP221 transcript variant X1	XM_017003550.2:c.527+2127… XM_017003550.2:c.527+2127A>C	N/A	Intron Variant
CFAP221 transcript variant X2	XM_017003551.2:c.527+2127… XM_017003551.2:c.527+2127A>C	N/A	Intron Variant
CFAP221 transcript variant X3	XM_017003552.2:c.527+2127… XM_017003552.2:c.527+2127A>C	N/A	Intron Variant
CFAP221 transcript variant X4	XM_017003553.3:c.527+2127… XM_017003553.3:c.527+2127A>C	N/A	Intron Variant
CFAP221 transcript variant X7	XM_017003558.2:c.527+2127… XM_017003558.2:c.527+2127A>C	N/A	Intron Variant
CFAP221 transcript variant X6	XM_047443618.1:c.59+2127A… XM_047443618.1:c.59+2127A>C	N/A	Intron Variant
CFAP221 transcript variant X10	XM_047443619.1:c.527+2127… XM_047443619.1:c.527+2127A>C	N/A	Intron Variant
CFAP221 transcript variant X9	XM_017003559.2:c.	N/A	Genic Upstream Transcript Variant
CFAP221 transcript variant X8	XR_922883.4: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	A=	C	G	T
GRCh38.p14 chr 2	NC_000002.12:g.119564241=	NC_000002.12:g.119564241A>C	NC_000002.12:g.119564241A>G	NC_000002.12:g.119564241A>T
GRCh37.p13 chr 2	NC_000002.11:g.120321817=	NC_000002.11:g.120321817A>C	NC_000002.11:g.120321817A>G	NC_000002.11:g.120321817A>T
CFAP221 transcript variant 1	NM_001271049.1:c.527+2127=	NM_001271049.1:c.527+2127A>C	NM_001271049.1:c.527+2127A>G	NM_001271049.1:c.527+2127A>T
CFAP221 transcript variant 1	NM_001271049.2:c.527+2127=	NM_001271049.2:c.527+2127A>C	NM_001271049.2:c.527+2127A>G	NM_001271049.2:c.527+2127A>T
CFAP221 transcript variant X5	XM_006712353.4:c.527+2127=	XM_006712353.4:c.527+2127A>C	XM_006712353.4:c.527+2127A>G	XM_006712353.4:c.527+2127A>T
CFAP221 transcript variant X1	XM_017003550.2:c.527+2127=	XM_017003550.2:c.527+2127A>C	XM_017003550.2:c.527+2127A>G	XM_017003550.2:c.527+2127A>T
CFAP221 transcript variant X2	XM_017003551.2:c.527+2127=	XM_017003551.2:c.527+2127A>C	XM_017003551.2:c.527+2127A>G	XM_017003551.2:c.527+2127A>T
CFAP221 transcript variant X3	XM_017003552.2:c.527+2127=	XM_017003552.2:c.527+2127A>C	XM_017003552.2:c.527+2127A>G	XM_017003552.2:c.527+2127A>T
CFAP221 transcript variant X4	XM_017003553.3:c.527+2127=	XM_017003553.3:c.527+2127A>C	XM_017003553.3:c.527+2127A>G	XM_017003553.3:c.527+2127A>T
CFAP221 transcript variant X7	XM_017003558.2:c.527+2127=	XM_017003558.2:c.527+2127A>C	XM_017003558.2:c.527+2127A>G	XM_017003558.2:c.527+2127A>T
CFAP221 transcript variant X6	XM_047443618.1:c.59+2127=	XM_047443618.1:c.59+2127A>C	XM_047443618.1:c.59+2127A>G	XM_047443618.1:c.59+2127A>T
CFAP221 transcript variant X10	XM_047443619.1:c.527+2127=	XM_047443619.1:c.527+2127A>C	XM_047443619.1:c.527+2127A>G	XM_047443619.1:c.527+2127A>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#.

154 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss3636825	Sep 28, 2001 (100)
2	BCM_SSAHASNP	ss9993531	Jul 11, 2003 (116)
3	WUGSC_SSAHASNP	ss14508707	Dec 05, 2003 (119)
4	CSHL-HAPMAP	ss17676851	Feb 27, 2004 (120)
5	SSAHASNP	ss21687356	Apr 05, 2004 (121)
6	PERLEGEN	ss24276765	Sep 20, 2004 (123)
7	ABI	ss44356458	Mar 14, 2006 (126)
8	AFFY	ss66097009	Dec 01, 2006 (127)
9	ILLUMINA	ss66711593	Dec 01, 2006 (127)
10	ILLUMINA	ss67262232	Dec 01, 2006 (127)
11	ILLUMINA	ss67661561	Dec 01, 2006 (127)
12	CSHL-HAPMAP	ss68408647	Jan 12, 2007 (127)
13	PERLEGEN	ss68825843	May 17, 2007 (127)
14	ILLUMINA	ss70740615	May 25, 2008 (130)
15	ILLUMINA	ss71311509	May 17, 2007 (127)
16	ILLUMINA	ss75641808	Dec 07, 2007 (129)
17	AFFY	ss76058821	Dec 07, 2007 (129)
18	HGSV	ss77484690	Dec 07, 2007 (129)
19	ILLUMINA	ss79140080	Dec 15, 2007 (130)
20	HGSV	ss79879804	Dec 15, 2007 (130)
21	KRIBB_YJKIM	ss84060544	Dec 15, 2007 (130)
22	BCMHGSC_JDW	ss91315859	Mar 24, 2008 (129)
23	HUMANGENOME_JCVI	ss97070568	Feb 06, 2009 (130)
24	BGI	ss106114261	Feb 06, 2009 (130)
25	1000GENOMES	ss109824628	Jan 24, 2009 (130)
26	1000GENOMES	ss110816127	Jan 25, 2009 (130)
27	ILLUMINA-UK	ss117847060	Feb 14, 2009 (130)
28	ILLUMINA	ss122064795	Dec 01, 2009 (131)
29	ENSEMBL	ss132817903	Dec 01, 2009 (131)
30	ENSEMBL	ss138515430	Dec 01, 2009 (131)
31	ILLUMINA	ss153921326	Dec 01, 2009 (131)
32	GMI	ss157569047	Dec 01, 2009 (131)
33	ILLUMINA	ss159398767	Dec 01, 2009 (131)
34	ILLUMINA	ss160561311	Dec 01, 2009 (131)
35	ILLUMINA	ss171310857	Jul 04, 2010 (132)
36	AFFY	ss172353827	Jul 04, 2010 (132)
37	ILLUMINA	ss173399352	Jul 04, 2010 (132)
38	BUSHMAN	ss200949673	Jul 04, 2010 (132)
39	BCM-HGSC-SUB	ss205807544	Jul 04, 2010 (132)
40	1000GENOMES	ss219465254	Jul 14, 2010 (132)
41	1000GENOMES	ss231329678	Jul 14, 2010 (132)
42	1000GENOMES	ss238845451	Jul 15, 2010 (132)
43	GMI	ss276642253	May 04, 2012 (137)
44	GMI	ss284421895	Apr 25, 2013 (138)
45	PJP	ss292351511	May 09, 2011 (134)
46	ILLUMINA	ss480610626	May 04, 2012 (137)
47	ILLUMINA	ss480625058	May 04, 2012 (137)
48	ILLUMINA	ss481459533	Sep 08, 2015 (146)
49	ILLUMINA	ss485100400	May 04, 2012 (137)
50	EXOME_CHIP	ss491323693	May 04, 2012 (137)
51	ILLUMINA	ss537106423	Sep 08, 2015 (146)
52	SSMP	ss649444668	Apr 25, 2013 (138)
53	ILLUMINA	ss778500613	Aug 21, 2014 (142)
54	ILLUMINA	ss780683690	Aug 21, 2014 (142)
55	ILLUMINA	ss782996494	Aug 21, 2014 (142)
56	ILLUMINA	ss783357103	Aug 21, 2014 (142)
57	ILLUMINA	ss783957096	Aug 21, 2014 (142)
58	ILLUMINA	ss825470598	Apr 01, 2015 (144)
59	ILLUMINA	ss832253462	Apr 01, 2015 (144)
60	ILLUMINA	ss832910489	Aug 21, 2014 (142)
61	ILLUMINA	ss833501319	Aug 21, 2014 (142)
62	ILLUMINA	ss833956723	Aug 21, 2014 (142)
63	EVA-GONL	ss977274393	Aug 21, 2014 (142)
64	JMKIDD_LAB	ss1069432416	Aug 21, 2014 (142)
65	1000GENOMES	ss1298988308	Aug 21, 2014 (142)
66	DDI	ss1428710450	Apr 01, 2015 (144)
67	EVA_GENOME_DK	ss1579052802	Apr 01, 2015 (144)
68	EVA_DECODE	ss1586699361	Apr 01, 2015 (144)
69	EVA_UK10K_ALSPAC	ss1604400129	Apr 01, 2015 (144)
70	EVA_UK10K_TWINSUK	ss1647394162	Apr 01, 2015 (144)
71	EVA_SVP	ss1712484861	Apr 01, 2015 (144)
72	ILLUMINA	ss1752307682	Sep 08, 2015 (146)
73	ILLUMINA	ss1752307683	Sep 08, 2015 (146)
74	HAMMER_LAB	ss1797375087	Sep 08, 2015 (146)
75	ILLUMINA	ss1917753185	Feb 12, 2016 (147)
76	WEILL_CORNELL_DGM	ss1920525375	Feb 12, 2016 (147)
77	ILLUMINA	ss1946050422	Feb 12, 2016 (147)
78	ILLUMINA	ss1958452416	Feb 12, 2016 (147)
79	GENOMED	ss1968867861	Jul 19, 2016 (147)
80	JJLAB	ss2020790039	Sep 14, 2016 (149)
81	USC_VALOUEV	ss2148846391	Dec 20, 2016 (150)
82	HUMAN_LONGEVITY	ss2233677286	Dec 20, 2016 (150)
83	SYSTEMSBIOZJU	ss2624900191	Nov 08, 2017 (151)
84	ILLUMINA	ss2633663924	Nov 08, 2017 (151)
85	ILLUMINA	ss2633663925	Nov 08, 2017 (151)
86	ILLUMINA	ss2633663926	Nov 08, 2017 (151)
87	GRF	ss2703458626	Nov 08, 2017 (151)
88	GNOMAD	ss2778690647	Nov 08, 2017 (151)
89	AFFY	ss2985183367	Nov 08, 2017 (151)
90	AFFY	ss2985804897	Nov 08, 2017 (151)
91	SWEGEN	ss2990278481	Nov 08, 2017 (151)
92	ILLUMINA	ss3022009199	Nov 08, 2017 (151)
93	BIOINF_KMB_FNS_UNIBA	ss3024157019	Nov 08, 2017 (151)
94	CSHL	ss3344435381	Nov 08, 2017 (151)
95	ILLUMINA	ss3628150518	Oct 11, 2018 (152)
96	ILLUMINA	ss3628150519	Oct 11, 2018 (152)
97	ILLUMINA	ss3631628030	Oct 11, 2018 (152)
98	ILLUMINA	ss3633213976	Oct 11, 2018 (152)
99	ILLUMINA	ss3633926278	Oct 11, 2018 (152)
100	ILLUMINA	ss3634784500	Oct 11, 2018 (152)
101	ILLUMINA	ss3634784501	Oct 11, 2018 (152)
102	ILLUMINA	ss3635612216	Oct 11, 2018 (152)
103	ILLUMINA	ss3636472879	Oct 11, 2018 (152)
104	ILLUMINA	ss3637364148	Oct 11, 2018 (152)
105	ILLUMINA	ss3638283688	Oct 11, 2018 (152)
106	ILLUMINA	ss3639145998	Oct 11, 2018 (152)
107	ILLUMINA	ss3639585505	Oct 11, 2018 (152)
108	ILLUMINA	ss3640491801	Oct 11, 2018 (152)
109	ILLUMINA	ss3640491802	Oct 11, 2018 (152)
110	ILLUMINA	ss3643251094	Oct 11, 2018 (152)
111	ILLUMINA	ss3644753131	Oct 11, 2018 (152)
112	URBANLAB	ss3647125204	Oct 11, 2018 (152)
113	ILLUMINA	ss3652449294	Oct 11, 2018 (152)
114	ILLUMINA	ss3653950005	Oct 11, 2018 (152)
115	EGCUT_WGS	ss3658151996	Jul 13, 2019 (153)
116	EVA_DECODE	ss3704734690	Jul 13, 2019 (153)
117	ILLUMINA	ss3725817977	Jul 13, 2019 (153)
118	ACPOP	ss3728797876	Jul 13, 2019 (153)
119	ILLUMINA	ss3744479386	Jul 13, 2019 (153)
120	ILLUMINA	ss3745084371	Jul 13, 2019 (153)
121	ILLUMINA	ss3745084372	Jul 13, 2019 (153)
122	EVA	ss3757280161	Jul 13, 2019 (153)
123	PAGE_CC	ss3770944465	Jul 13, 2019 (153)
124	ILLUMINA	ss3772581076	Jul 13, 2019 (153)
125	ILLUMINA	ss3772581077	Jul 13, 2019 (153)
126	KHV_HUMAN_GENOMES	ss3801647231	Jul 13, 2019 (153)
127	EVA	ss3827180118	Apr 25, 2020 (154)
128	EVA	ss3837004789	Apr 25, 2020 (154)
129	EVA	ss3842423430	Apr 25, 2020 (154)
130	HGDP	ss3847630739	Apr 25, 2020 (154)
131	SGDP_PRJ	ss3853226556	Apr 25, 2020 (154)
132	KRGDB	ss3898743602	Apr 25, 2020 (154)
133	EVA	ss3984488553	Apr 26, 2021 (155)
134	EVA	ss3984917303	Apr 26, 2021 (155)
135	EVA	ss4017017192	Apr 26, 2021 (155)
136	TOPMED	ss4521097631	Apr 26, 2021 (155)
137	TOMMO_GENOMICS	ss5153476605	Apr 26, 2021 (155)
138	1000G_HIGH_COVERAGE	ss5249710777	Oct 12, 2022 (156)
139	EVA	ss5314763903	Oct 12, 2022 (156)
140	EVA	ss5331789779	Oct 12, 2022 (156)
141	HUGCELL_USP	ss5449578352	Oct 12, 2022 (156)
142	1000G_HIGH_COVERAGE	ss5525823009	Oct 12, 2022 (156)
143	SANFORD_IMAGENETICS	ss5624455420	Oct 12, 2022 (156)
144	SANFORD_IMAGENETICS	ss5629631121	Oct 12, 2022 (156)
145	TOMMO_GENOMICS	ss5683483616	Oct 12, 2022 (156)
146	EVA	ss5799543342	Oct 12, 2022 (156)
147	YY_MCH	ss5802648976	Oct 12, 2022 (156)
148	EVA	ss5820687560	Oct 12, 2022 (156)
149	EVA	ss5847194700	Oct 12, 2022 (156)
150	EVA	ss5847880790	Oct 12, 2022 (156)
151	EVA	ss5852683535	Oct 12, 2022 (156)
152	EVA	ss5932048575	Oct 12, 2022 (156)
153	EVA	ss5955842089	Oct 12, 2022 (156)
154	EVA	ss5979579448	Oct 12, 2022 (156)
155	1000Genomes	NC_000002.11 - 120321817	Oct 11, 2018 (152)
156	1000Genomes_30x	NC_000002.12 - 119564241	Oct 12, 2022 (156)
157	The Avon Longitudinal Study of Parents and Children	NC_000002.11 - 120321817	Oct 11, 2018 (152)
158	Genetic variation in the Estonian population	NC_000002.11 - 120321817	Oct 11, 2018 (152)
159	The Danish reference pan genome	NC_000002.11 - 120321817	Apr 25, 2020 (154)
160	gnomAD - Genomes	NC_000002.12 - 119564241	Apr 26, 2021 (155)
161	Genome of the Netherlands Release 5	NC_000002.11 - 120321817	Apr 25, 2020 (154)
162	HGDP-CEPH-db Supplement 1	NC_000002.10 - 120038287	Apr 25, 2020 (154)
163	HapMap	NC_000002.12 - 119564241	Apr 25, 2020 (154)
164	KOREAN population from KRGDB	NC_000002.11 - 120321817	Apr 25, 2020 (154)
165	Northern Sweden	NC_000002.11 - 120321817	Jul 13, 2019 (153)
166	The PAGE Study	NC_000002.12 - 119564241	Jul 13, 2019 (153)
167	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000002.11 - 120321817	Apr 26, 2021 (155)
168	CNV burdens in cranial meningiomas	NC_000002.11 - 120321817	Apr 26, 2021 (155)
169	Qatari	NC_000002.11 - 120321817	Apr 25, 2020 (154)
170	SGDP_PRJ	NC_000002.11 - 120321817	Apr 25, 2020 (154)
171	Siberian	NC_000002.11 - 120321817	Apr 25, 2020 (154)
172	8.3KJPN	NC_000002.11 - 120321817	Apr 26, 2021 (155)
173	14KJPN	NC_000002.12 - 119564241	Oct 12, 2022 (156)
174	TopMed	NC_000002.12 - 119564241	Apr 26, 2021 (155)
175	UK 10K study - Twins	NC_000002.11 - 120321817	Oct 11, 2018 (152)
176	A Vietnamese Genetic Variation Database	NC_000002.11 - 120321817	Jul 13, 2019 (153)
177	ALFA	NC_000002.12 - 119564241	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)
rs17607459	Oct 07, 2004 (123)
rs60037480	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
5920996, ss3898743602	NC_000002.11:120321816:A:C	NC_000002.12:119564240:A:C	(self)
ss77484690, ss79879804, ss3639145998, ss3639585505	NC_000002.9:120038046:A:G	NC_000002.12:119564240:A:G	(self)
308631, ss91315859, ss109824628, ss110816127, ss117847060, ss160561311, ss200949673, ss205807544, ss276642253, ss284421895, ss292351511, ss480610626, ss825470598, ss1586699361, ss1712484861, ss3643251094, ss3847630739	NC_000002.10:120038286:A:G	NC_000002.12:119564240:A:G	(self)
9992843, 5516250, 3890244, 5218578, 2424173, 5920996, 2082741, 143230, 37887, 2567305, 5243536, 1362745, 11445912, 5516250, 1194658, ss219465254, ss231329678, ss238845451, ss480625058, ss481459533, ss485100400, ss491323693, ss537106423, ss649444668, ss778500613, ss780683690, ss782996494, ss783357103, ss783957096, ss832253462, ss832910489, ss833501319, ss833956723, ss977274393, ss1069432416, ss1298988308, ss1428710450, ss1579052802, ss1604400129, ss1647394162, ss1752307682, ss1752307683, ss1797375087, ss1917753185, ss1920525375, ss1946050422, ss1958452416, ss1968867861, ss2020790039, ss2148846391, ss2624900191, ss2633663924, ss2633663925, ss2633663926, ss2703458626, ss2778690647, ss2985183367, ss2985804897, ss2990278481, ss3022009199, ss3344435381, ss3628150518, ss3628150519, ss3631628030, ss3633213976, ss3633926278, ss3634784500, ss3634784501, ss3635612216, ss3636472879, ss3637364148, ss3638283688, ss3640491801, ss3640491802, ss3644753131, ss3652449294, ss3653950005, ss3658151996, ss3728797876, ss3744479386, ss3745084371, ss3745084372, ss3757280161, ss3772581076, ss3772581077, ss3827180118, ss3837004789, ss3853226556, ss3898743602, ss3984488553, ss3984917303, ss4017017192, ss5153476605, ss5314763903, ss5331789779, ss5624455420, ss5629631121, ss5799543342, ss5820687560, ss5847194700, ss5847880790, ss5955842089, ss5979579448	NC_000002.11:120321816:A:G	NC_000002.12:119564240:A:G	(self)
13348944, 71365214, 1878349, 165934, 17320720, 324920510, 11393189118, ss2233677286, ss3024157019, ss3647125204, ss3704734690, ss3725817977, ss3770944465, ss3801647231, ss3842423430, ss4521097631, ss5249710777, ss5449578352, ss5525823009, ss5683483616, ss5802648976, ss5852683535, ss5932048575	NC_000002.12:119564240:A:G	NC_000002.12:119564240:A:G	(self)
ss9993531, ss14508707, ss17676851, ss21687356	NT_022135.13:9029558:A:G	NC_000002.12:119564240:A:G	(self)
ss3636825, ss24276765, ss44356458, ss66097009, ss66711593, ss67262232, ss67661561, ss68408647, ss68825843, ss70740615, ss71311509, ss75641808, ss76058821, ss79140080, ss84060544, ss97070568, ss106114261, ss122064795, ss132817903, ss138515430, ss153921326, ss157569047, ss159398767, ss171310857, ss172353827, ss173399352	NT_022135.16:10070479:A:G	NC_000002.12:119564240:A:G	(self)
5920996, ss3898743602	NC_000002.11:120321816:A:T	NC_000002.12:119564240:A:T	(self)

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

1 citation for rs2587695

PMID	Title	Author	Year	Journal
19384554	Genome-wide association studies in ADHD.	Franke B et al.	2009	Human genetics

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

rs2587695