Name: rs17231212
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.

rs17231212

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:135100989 (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>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.054868 (14523/264690, TOPMED)
C=0.083551 (19921/238428, ALFA)
C=0.062423 (8755/140252, GnomAD) (+ 18 more)
C=0.03017 (2374/78696, PAGE_STUDY)
C=0.0281 (180/6404, 1000G_30x)
C=0.0266 (133/5008, 1000G)
C=0.1033 (463/4480, Estonian)
C=0.0942 (363/3854, ALSPAC)
C=0.1028 (381/3708, TWINSUK)
C=0.0216 (45/2084, HGDP_Stanford)
C=0.0176 (20/1136, Daghestan)
C=0.092 (92/998, GoNL)
C=0.033 (29/886, HapMap)
C=0.001 (1/792, PRJEB37584)
C=0.057 (34/600, NorthernSweden)
C=0.037 (8/216, Qatari)
C=0.03 (1/40, GENOME_DK)
C=0.12 (4/32, Ancient Sardinia)
T=0.44 (8/18, SGDP_PRJ)
T=0.5 (4/8, Siberian)
C=0.5 (4/8, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: AGBL3 : Intron Variant
CYREN : 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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	243464	T=0.916678	C=0.083322	0.841094	0.007738	0.151168	8
European	Sub	212888	T=0.909929	C=0.090071	0.828379	0.008521	0.1631	2
African	Sub	8300	T=0.9840	C=0.0160	0.968193	0.000241	0.031566	0
African Others	Sub	320	T=1.000	C=0.000	1.0	0.0	0.0	N/A
African American	Sub	7980	T=0.9833	C=0.0167	0.966917	0.000251	0.032832	0
Asian	Sub	782	T=0.999	C=0.001	0.997442	0.0	0.002558	0
East Asian	Sub	636	T=1.000	C=0.000	1.0	0.0	0.0	N/A
Other Asian	Sub	146	T=0.993	C=0.007	0.986301	0.0	0.013699	0
Latin American 1	Sub	844	T=0.925	C=0.075	0.853081	0.00237	0.14455	1
Latin American 2	Sub	6878	T=0.9562	C=0.0438	0.915092	0.002617	0.082291	1
South Asian	Sub	5048	T=0.9844	C=0.0156	0.970681	0.001981	0.027338	18
Other	Sub	8724	T=0.9388	C=0.0612	0.881935	0.004356	0.113709	0

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	T=0.945132	C=0.054868
Allele Frequency Aggregator	Total	Global	238428	T=0.916449	C=0.083551
Allele Frequency Aggregator	European	Sub	209794	T=0.910050	C=0.089950
Allele Frequency Aggregator	Other	Sub	7924	T=0.9375	C=0.0625
Allele Frequency Aggregator	African	Sub	7158	T=0.9845	C=0.0155
Allele Frequency Aggregator	Latin American 2	Sub	6878	T=0.9562	C=0.0438
Allele Frequency Aggregator	South Asian	Sub	5048	T=0.9844	C=0.0156
Allele Frequency Aggregator	Latin American 1	Sub	844	T=0.925	C=0.075
Allele Frequency Aggregator	Asian	Sub	782	T=0.999	C=0.001
gnomAD - Genomes	Global	Study-wide	140252	T=0.937577	C=0.062423
gnomAD - Genomes	European	Sub	75926	T=0.90583	C=0.09417
gnomAD - Genomes	African	Sub	42054	T=0.98297	C=0.01703
gnomAD - Genomes	American	Sub	13666	T=0.95141	C=0.04859
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	T=0.9696	C=0.0304
gnomAD - Genomes	East Asian	Sub	3134	T=0.9997	C=0.0003
gnomAD - Genomes	Other	Sub	2154	T=0.9429	C=0.0571
The PAGE Study	Global	Study-wide	78696	T=0.96983	C=0.03017
The PAGE Study	AfricanAmerican	Sub	32514	T=0.97979	C=0.02021
The PAGE Study	Mexican	Sub	10810	T=0.95236	C=0.04764
The PAGE Study	Asian	Sub	8318	T=0.9998	C=0.0002
The PAGE Study	PuertoRican	Sub	7918	T=0.9465	C=0.0535
The PAGE Study	NativeHawaiian	Sub	4532	T=0.9782	C=0.0218
The PAGE Study	Cuban	Sub	4228	T=0.9286	C=0.0714
The PAGE Study	Dominican	Sub	3828	T=0.9673	C=0.0327
The PAGE Study	CentralAmerican	Sub	2450	T=0.9657	C=0.0343
The PAGE Study	SouthAmerican	Sub	1982	T=0.9612	C=0.0388
The PAGE Study	NativeAmerican	Sub	1260	T=0.9405	C=0.0595
The PAGE Study	SouthAsian	Sub	856	T=0.984	C=0.016
1000Genomes_30x	Global	Study-wide	6404	T=0.9719	C=0.0281
1000Genomes_30x	African	Sub	1786	T=0.9961	C=0.0039
1000Genomes_30x	Europe	Sub	1266	T=0.9139	C=0.0861
1000Genomes_30x	South Asian	Sub	1202	T=0.9875	C=0.0125
1000Genomes_30x	East Asian	Sub	1170	T=0.9991	C=0.0009
1000Genomes_30x	American	Sub	980	T=0.951	C=0.049
1000Genomes	Global	Study-wide	5008	T=0.9734	C=0.0266
1000Genomes	African	Sub	1322	T=0.9962	C=0.0038
1000Genomes	East Asian	Sub	1008	T=0.9990	C=0.0010
1000Genomes	Europe	Sub	1006	T=0.9165	C=0.0835
1000Genomes	South Asian	Sub	978	T=0.988	C=0.012
1000Genomes	American	Sub	694	T=0.955	C=0.045
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.8967	C=0.1033
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.9058	C=0.0942
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.8972	C=0.1028
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	T=0.9784	C=0.0216
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	T=1.000	C=0.000
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	T=0.986	C=0.014
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	T=0.971	C=0.029
HGDP-CEPH-db Supplement 1	Europe	Sub	320	T=0.909	C=0.091
HGDP-CEPH-db Supplement 1	Africa	Sub	242	T=1.000	C=0.000
HGDP-CEPH-db Supplement 1	America	Sub	216	T=1.000	C=0.000
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	T=1.00	C=0.00
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	T=0.9824	C=0.0176
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	T=0.987	C=0.013
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	T=0.986	C=0.014
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	T=0.984	C=0.016
Genome-wide autozygosity in Daghestan	Europe	Sub	108	T=0.935	C=0.065
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	T=1.00	C=0.00
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	T=0.97	C=0.03
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.908	C=0.092
HapMap	Global	Study-wide	886	T=0.967	C=0.033
HapMap	American	Sub	500	T=0.964	C=0.036
HapMap	Europe	Sub	176	T=0.938	C=0.062
HapMap	African	Sub	120	T=1.000	C=0.000
HapMap	Asian	Sub	90	T=1.00	C=0.00
CNV burdens in cranial meningiomas	Global	Study-wide	792	T=0.999	C=0.001
CNV burdens in cranial meningiomas	CRM	Sub	792	T=0.999	C=0.001
Northern Sweden	ACPOP	Study-wide	600	T=0.943	C=0.057
Qatari	Global	Study-wide	216	T=0.963	C=0.037
The Danish reference pan genome	Danish	Study-wide	40	T=0.97	C=0.03
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	32	T=0.88	C=0.12
SGDP_PRJ	Global	Study-wide	18	T=0.44	C=0.56
Siberian	Global	Study-wide	8	T=0.5	C=0.5

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 7	NC_000007.14:g.135100989T>C
GRCh37.p13 chr 7	NC_000007.13:g.134785741T>C

Gene: CYREN, cell cycle regulator of NHEJ (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CYREN transcript variant 9	NM_001305630.2:c.175-6407… NM_001305630.2:c.175-6407A>G	N/A	Intron Variant
CYREN transcript variant 2	NM_001243749.2:c.	N/A	Genic Downstream Transcript Variant
CYREN transcript variant 3	NM_001243751.2:c.	N/A	Genic Downstream Transcript Variant
CYREN transcript variant 4	NM_001243752.2:c.	N/A	Genic Downstream Transcript Variant
CYREN transcript variant 5	NM_001243753.2:c.	N/A	Genic Downstream Transcript Variant
CYREN transcript variant 6	NM_001243754.2:c.	N/A	Genic Downstream Transcript Variant
CYREN transcript variant 7	NM_001243755.2:c.	N/A	Genic Downstream Transcript Variant
CYREN transcript variant 8	NM_001305629.2:c.	N/A	Genic Downstream Transcript Variant
CYREN transcript variant 10	NM_001363329.2:c.	N/A	Genic Downstream Transcript Variant
CYREN transcript variant 11	NM_001363330.2:c.	N/A	Genic Downstream Transcript Variant
CYREN transcript variant 1	NM_024033.4:c.	N/A	Genic Downstream Transcript Variant
CYREN transcript variant X5	XM_017012595.2:c.41-6407… XM_017012595.2:c.41-6407A>G	N/A	Intron Variant
CYREN transcript variant X6	XM_017012591.3:c.	N/A	Genic Downstream Transcript Variant
CYREN transcript variant X1	XM_017012592.3:c.	N/A	Genic Downstream Transcript Variant
CYREN transcript variant X2	XM_047420823.1:c.	N/A	Genic Downstream Transcript Variant
CYREN transcript variant X7	XM_047420824.1:c.	N/A	Genic Downstream Transcript Variant
CYREN transcript variant X3	XM_047420825.1:c.	N/A	Genic Downstream Transcript Variant
CYREN transcript variant X4	XM_047420826.1:c.	N/A	Genic Downstream Transcript Variant

Gene: AGBL3, AGBL carboxypeptidase 3 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
AGBL3 transcript variant 2	NM_001345850.1:c.614-1439… NM_001345850.1:c.614-14391T>C	N/A	Intron Variant
AGBL3 transcript variant 3	NM_001345851.1:c.434-1439… NM_001345851.1:c.434-14391T>C	N/A	Intron Variant
AGBL3 transcript variant 4	NM_001345852.1:c.433+1919… NM_001345852.1:c.433+19199T>C	N/A	Intron Variant
AGBL3 transcript variant 5	NM_001345853.1:c.433+1919… NM_001345853.1:c.433+19199T>C	N/A	Intron Variant
AGBL3 transcript variant 10	NM_001367814.1:c.232-3385… NM_001367814.1:c.232-33852T>C	N/A	Intron Variant
AGBL3 transcript variant 1	NM_178563.4:c.2111-14391T… NM_178563.4:c.2111-14391T>C	N/A	Intron Variant
AGBL3 transcript variant 7	NM_001367811.1:c.	N/A	Genic Downstream Transcript Variant
AGBL3 transcript variant 8	NM_001367812.1:c.	N/A	Genic Downstream Transcript Variant
AGBL3 transcript variant 9	NM_001367813.1:c.	N/A	Genic Downstream Transcript Variant
AGBL3 transcript variant 11	NM_001367815.1:c.	N/A	Genic Downstream Transcript Variant
AGBL3 transcript variant 12	NM_001367816.1:c.	N/A	Genic Downstream Transcript Variant
AGBL3 transcript variant 13	NM_001367817.1:c.	N/A	Genic Downstream Transcript Variant
AGBL3 transcript variant 14	NM_001367818.1:c.	N/A	Genic Downstream Transcript Variant
AGBL3 transcript variant 15	NM_001367819.1:c.	N/A	Genic Downstream Transcript Variant
AGBL3 transcript variant 6	NR_144293.1:n.	N/A	Intron Variant
AGBL3 transcript variant 19	NR_160300.1:n.	N/A	Intron Variant
AGBL3 transcript variant 16	NR_160297.1:n.	N/A	Genic Downstream Transcript Variant
AGBL3 transcript variant 17	NR_160298.1:n.	N/A	Genic Downstream Transcript Variant
AGBL3 transcript variant 18	NR_160299.1:n.	N/A	Genic Downstream Transcript Variant
AGBL3 transcript variant X1	XM_047420318.1:c.2111-143… XM_047420318.1:c.2111-14391T>C	N/A	Intron Variant
AGBL3 transcript variant X2	XM_047420319.1:c.1931-143… XM_047420319.1:c.1931-14391T>C	N/A	Intron Variant
AGBL3 transcript variant X6	XM_011516122.4:c.	N/A	Genic Downstream Transcript Variant
AGBL3 transcript variant X3	XM_047420320.1:c.	N/A	Genic Downstream Transcript Variant
AGBL3 transcript variant X4	XM_047420321.1:c.	N/A	Genic Downstream Transcript Variant
AGBL3 transcript variant X5	XM_047420322.1:c.	N/A	Genic Downstream Transcript Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	T=	C
GRCh38.p14 chr 7	NC_000007.14:g.135100989=	NC_000007.14:g.135100989T>C
GRCh37.p13 chr 7	NC_000007.13:g.134785741=	NC_000007.13:g.134785741T>C
CYREN transcript variant 9	NM_001305630.2:c.175-6407=	NM_001305630.2:c.175-6407A>G
AGBL3 transcript variant 2	NM_001345850.1:c.614-14391=	NM_001345850.1:c.614-14391T>C
AGBL3 transcript variant 3	NM_001345851.1:c.434-14391=	NM_001345851.1:c.434-14391T>C
AGBL3 transcript variant 4	NM_001345852.1:c.433+19199=	NM_001345852.1:c.433+19199T>C
AGBL3 transcript variant 5	NM_001345853.1:c.433+19199=	NM_001345853.1:c.433+19199T>C
AGBL3 transcript variant 10	NM_001367814.1:c.232-33852=	NM_001367814.1:c.232-33852T>C
AGBL3 transcript variant 1	NM_178563.3:c.2111-14391=	NM_178563.3:c.2111-14391T>C
AGBL3 transcript variant 1	NM_178563.4:c.2111-14391=	NM_178563.4:c.2111-14391T>C
CYREN transcript variant X5	XM_017012595.2:c.*41-6407=	XM_017012595.2:c.*41-6407A>G
AGBL3 transcript variant X1	XM_047420318.1:c.2111-14391=	XM_047420318.1:c.2111-14391T>C
AGBL3 transcript variant X2	XM_047420319.1:c.1931-14391=	XM_047420319.1:c.1931-14391T>C

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#.

103 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	PERLEGEN	ss24511431	Sep 20, 2004 (123)
2	ABI	ss43027960	Mar 13, 2006 (126)
3	ILLUMINA	ss67181818	Nov 29, 2006 (127)
4	ILLUMINA	ss67550623	Nov 29, 2006 (127)
5	ILLUMINA	ss68178018	Dec 12, 2006 (127)
6	PERLEGEN	ss69029164	May 16, 2007 (127)
7	ILLUMINA	ss70659863	May 27, 2008 (130)
8	ILLUMINA	ss71220896	May 16, 2007 (127)
9	ILLUMINA	ss75596888	Dec 07, 2007 (129)
10	KRIBB_YJKIM	ss85376706	Dec 16, 2007 (130)
11	HUMANGENOME_JCVI	ss98341717	Feb 06, 2009 (130)
12	ILLUMINA	ss153654848	Dec 01, 2009 (131)
13	ILLUMINA	ss159313772	Dec 01, 2009 (131)
14	ILLUMINA	ss160435931	Dec 01, 2009 (131)
15	ILLUMINA	ss172790772	Jul 04, 2010 (132)
16	1000GENOMES	ss234182030	Jul 15, 2010 (132)
17	PJP	ss293972946	May 09, 2011 (134)
18	ILLUMINA	ss480216499	May 04, 2012 (137)
19	ILLUMINA	ss480226969	May 04, 2012 (137)
20	ILLUMINA	ss480959959	Sep 08, 2015 (146)
21	ILLUMINA	ss484906217	May 04, 2012 (137)
22	ILLUMINA	ss536959709	Sep 08, 2015 (146)
23	ILLUMINA	ss778458502	Aug 21, 2014 (142)
24	ILLUMINA	ss782899425	Aug 21, 2014 (142)
25	ILLUMINA	ss783862793	Aug 21, 2014 (142)
26	ILLUMINA	ss832154195	Apr 01, 2015 (144)
27	ILLUMINA	ss832825823	Aug 21, 2014 (142)
28	ILLUMINA	ss833416653	Aug 21, 2014 (142)
29	ILLUMINA	ss833914179	Aug 21, 2014 (142)
30	EVA-GONL	ss984840023	Aug 21, 2014 (142)
31	1000GENOMES	ss1327295026	Aug 21, 2014 (142)
32	HAMMER_LAB	ss1397507102	Sep 08, 2015 (146)
33	EVA_GENOME_DK	ss1582417833	Apr 01, 2015 (144)
34	EVA_DECODE	ss1594428508	Apr 01, 2015 (144)
35	EVA_UK10K_ALSPAC	ss1619302549	Apr 01, 2015 (144)
36	EVA_UK10K_TWINSUK	ss1662296582	Apr 01, 2015 (144)
37	ILLUMINA	ss1752665693	Sep 08, 2015 (146)
38	WEILL_CORNELL_DGM	ss1928096233	Feb 12, 2016 (147)
39	ILLUMINA	ss1946221589	Feb 12, 2016 (147)
40	ILLUMINA	ss1959054152	Feb 12, 2016 (147)
41	JJLAB	ss2024737541	Sep 14, 2016 (149)
42	USC_VALOUEV	ss2152959532	Dec 20, 2016 (150)
43	HUMAN_LONGEVITY	ss2298191632	Dec 20, 2016 (150)
44	ILLUMINA	ss2634664660	Nov 08, 2017 (151)
45	ILLUMINA	ss2634664661	Nov 08, 2017 (151)
46	ILLUMINA	ss2711122134	Nov 08, 2017 (151)
47	GNOMAD	ss2859568829	Nov 08, 2017 (151)
48	AFFY	ss2986053391	Nov 08, 2017 (151)
49	SWEGEN	ss3002098840	Nov 08, 2017 (151)
50	ILLUMINA	ss3022782589	Nov 08, 2017 (151)
51	BIOINF_KMB_FNS_UNIBA	ss3026158363	Nov 08, 2017 (151)
52	CSHL	ss3347861955	Nov 08, 2017 (151)
53	ILLUMINA	ss3625939235	Oct 12, 2018 (152)
54	ILLUMINA	ss3629922044	Oct 12, 2018 (152)
55	ILLUMINA	ss3632568627	Oct 12, 2018 (152)
56	ILLUMINA	ss3633479123	Oct 12, 2018 (152)
57	ILLUMINA	ss3634204826	Oct 12, 2018 (152)
58	ILLUMINA	ss3635143191	Oct 12, 2018 (152)
59	ILLUMINA	ss3635884214	Oct 12, 2018 (152)
60	ILLUMINA	ss3636878170	Oct 12, 2018 (152)
61	ILLUMINA	ss3637637260	Oct 12, 2018 (152)
62	ILLUMINA	ss3638725894	Oct 12, 2018 (152)
63	ILLUMINA	ss3639364160	Oct 12, 2018 (152)
64	ILLUMINA	ss3639976221	Oct 12, 2018 (152)
65	ILLUMINA	ss3640850482	Oct 12, 2018 (152)
66	ILLUMINA	ss3643659542	Oct 12, 2018 (152)
67	ILLUMINA	ss3644020081	Oct 12, 2018 (152)
68	ILLUMINA	ss3644954746	Oct 12, 2018 (152)
69	ILLUMINA	ss3653318346	Oct 12, 2018 (152)
70	EGCUT_WGS	ss3669857010	Jul 13, 2019 (153)
71	EVA_DECODE	ss3720771890	Jul 13, 2019 (153)
72	ILLUMINA	ss3726484766	Jul 13, 2019 (153)
73	ACPOP	ss3735105944	Jul 13, 2019 (153)
74	ILLUMINA	ss3744296881	Jul 13, 2019 (153)
75	ILLUMINA	ss3745443170	Jul 13, 2019 (153)
76	EVA	ss3767210080	Jul 13, 2019 (153)
77	PAGE_CC	ss3771400929	Jul 13, 2019 (153)
78	ILLUMINA	ss3772935903	Jul 13, 2019 (153)
79	KHV_HUMAN_GENOMES	ss3810376400	Jul 13, 2019 (153)
80	EVA	ss3830840443	Apr 26, 2020 (154)
81	HGDP	ss3847892136	Apr 26, 2020 (154)
82	SGDP_PRJ	ss3868479177	Apr 26, 2020 (154)
83	FSA-LAB	ss3984381320	Apr 26, 2021 (155)
84	FSA-LAB	ss3984381321	Apr 26, 2021 (155)
85	EVA	ss3984595744	Apr 26, 2021 (155)
86	EVA	ss3985324102	Apr 26, 2021 (155)
87	EVA	ss4017361129	Apr 26, 2021 (155)
88	TOPMED	ss4765189536	Apr 26, 2021 (155)
89	EVA	ss5237430005	Apr 26, 2021 (155)
90	1000G_HIGH_COVERAGE	ss5274878592	Oct 13, 2022 (156)
91	EVA	ss5315281547	Oct 13, 2022 (156)
92	EVA	ss5377040946	Oct 13, 2022 (156)
93	HUGCELL_USP	ss5471751224	Oct 13, 2022 (156)
94	1000G_HIGH_COVERAGE	ss5564108094	Oct 13, 2022 (156)
95	SANFORD_IMAGENETICS	ss5624676146	Oct 13, 2022 (156)
96	SANFORD_IMAGENETICS	ss5644066120	Oct 13, 2022 (156)
97	EVA	ss5799737971	Oct 13, 2022 (156)
98	EVA	ss5823580776	Oct 13, 2022 (156)
99	EVA	ss5847326698	Oct 13, 2022 (156)
100	EVA	ss5856113312	Oct 13, 2022 (156)
101	EVA	ss5861048258	Oct 13, 2022 (156)
102	EVA	ss5973269210	Oct 13, 2022 (156)
103	EVA	ss5979842529	Oct 13, 2022 (156)
104	1000Genomes	NC_000007.13 - 134785741	Oct 12, 2018 (152)
105	1000Genomes_30x	NC_000007.14 - 135100989	Oct 13, 2022 (156)
106	The Avon Longitudinal Study of Parents and Children	NC_000007.13 - 134785741	Oct 12, 2018 (152)
107	Genome-wide autozygosity in Daghestan	NC_000007.12 - 134436281	Apr 26, 2020 (154)
108	Genetic variation in the Estonian population	NC_000007.13 - 134785741	Oct 12, 2018 (152)
109	The Danish reference pan genome	NC_000007.13 - 134785741	Apr 26, 2020 (154)
110	gnomAD - Genomes	NC_000007.14 - 135100989	Apr 26, 2021 (155)
111	Genome of the Netherlands Release 5	NC_000007.13 - 134785741	Apr 26, 2020 (154)
112	HGDP-CEPH-db Supplement 1	NC_000007.12 - 134436281	Apr 26, 2020 (154)
113	HapMap	NC_000007.14 - 135100989	Apr 26, 2020 (154)
114	Northern Sweden	NC_000007.13 - 134785741	Jul 13, 2019 (153)
115	The PAGE Study	NC_000007.14 - 135100989	Jul 13, 2019 (153)
116	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000007.13 - 134785741	Apr 26, 2021 (155)
117	CNV burdens in cranial meningiomas	NC_000007.13 - 134785741	Apr 26, 2021 (155)
118	Qatari	NC_000007.13 - 134785741	Apr 26, 2020 (154)
119	SGDP_PRJ	NC_000007.13 - 134785741	Apr 26, 2020 (154)
120	Siberian	NC_000007.13 - 134785741	Apr 26, 2020 (154)
121	TopMed	NC_000007.14 - 135100989	Apr 26, 2021 (155)
122	UK 10K study - Twins	NC_000007.13 - 134785741	Oct 12, 2018 (152)
123	ALFA	NC_000007.14 - 135100989	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)
rs61525514	May 27, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss3639364160, ss3639976221, ss3644020081	NC_000007.11:134242995:T:C	NC_000007.14:135100988:T:C	(self)
481115, 570028, ss160435931, ss293972946, ss480216499, ss1397507102, ss1594428508, ss3643659542, ss3847892136	NC_000007.12:134436280:T:C	NC_000007.14:135100988:T:C	(self)
39344879, 21896506, 15595258, 8582771, 9769608, 8390809, 550029, 145175, 10138163, 20496157, 5475886, 21896506, ss234182030, ss480226969, ss480959959, ss484906217, ss536959709, ss778458502, ss782899425, ss783862793, ss832154195, ss832825823, ss833416653, ss833914179, ss984840023, ss1327295026, ss1582417833, ss1619302549, ss1662296582, ss1752665693, ss1928096233, ss1946221589, ss1959054152, ss2024737541, ss2152959532, ss2634664660, ss2634664661, ss2711122134, ss2859568829, ss2986053391, ss3002098840, ss3022782589, ss3347861955, ss3625939235, ss3629922044, ss3632568627, ss3633479123, ss3634204826, ss3635143191, ss3635884214, ss3636878170, ss3637637260, ss3638725894, ss3640850482, ss3644954746, ss3653318346, ss3669857010, ss3735105944, ss3744296881, ss3745443170, ss3767210080, ss3772935903, ss3830840443, ss3868479177, ss3984381320, ss3984381321, ss3984595744, ss3985324102, ss4017361129, ss5237430005, ss5315281547, ss5377040946, ss5624676146, ss5644066120, ss5799737971, ss5823580776, ss5847326698, ss5973269210, ss5979842529	NC_000007.13:134785740:T:C	NC_000007.14:135100988:T:C	(self)
51634029, 277846569, 3501683, 622398, 602567095, 2438472244, ss2298191632, ss3026158363, ss3720771890, ss3726484766, ss3771400929, ss3810376400, ss4765189536, ss5274878592, ss5471751224, ss5564108094, ss5856113312, ss5861048258	NC_000007.14:135100988:T:C	NC_000007.14:135100988:T:C	(self)
ss24511431, ss43027960, ss67181818, ss67550623, ss68178018, ss69029164, ss70659863, ss71220896, ss75596888, ss85376706, ss98341717, ss153654848, ss159313772, ss172790772	NT_007933.15:72818583:T:C	NC_000007.14:135100988:T:C	(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 rs17231212

PMID	Title	Author	Year	Journal
22610502	Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.	Kennedy RB et al.	2012	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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs17231212