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dbSNP Short Genetic Variations

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.

rs12608932

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr19:17641880 (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>T
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.349439 (92493/264690, TOPMED)
C=0.336939 (70301/208646, ALFA)
C=0.358665 (50041/139520, GnomAD) (+ 21 more)
C=0.38603 (30373/78680, PAGE_STUDY)
A=0.28660 (6578/22952, 14KJPN)
A=0.25889 (4339/16760, 8.3KJPN)
C=0.4229 (2708/6404, 1000G_30x)
C=0.4339 (2173/5008, 1000G)
C=0.3701 (1658/4480, Estonian)
C=0.3557 (1371/3854, ALSPAC)
C=0.3479 (1290/3708, TWINSUK)
A=0.2986 (875/2930, KOREAN)
C=0.3848 (802/2084, HGDP_Stanford)
C=0.4228 (800/1892, HapMap)
A=0.2915 (534/1832, Korea1K)
C=0.3912 (442/1130, Daghestan)
C=0.360 (359/998, GoNL)
A=0.304 (239/786, PRJEB37584)
C=0.408 (245/600, NorthernSweden)
A=0.335 (114/340, SGDP_PRJ)
C=0.204 (44/216, Qatari)
C=0.41 (40/98, Ancient Sardinia)
A=0.33 (15/46, Siberian)
C=0.35 (14/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
UNC13A : Intron Variant
Publications
18 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 208740 A=0.663083 C=0.336917, T=0.000000
European Sub 182214 A=0.666782 C=0.333218, T=0.000000
African Sub 9884 A=0.6656 C=0.3344, T=0.0000
African Others Sub 342 A=0.649 C=0.351, T=0.000
African American Sub 9542 A=0.6662 C=0.3338, T=0.0000
Asian Sub 738 A=0.358 C=0.642, T=0.000
East Asian Sub 592 A=0.348 C=0.652, T=0.000
Other Asian Sub 146 A=0.397 C=0.603, T=0.000
Latin American 1 Sub 784 A=0.676 C=0.324, T=0.000
Latin American 2 Sub 2842 A=0.6826 C=0.3174, T=0.0000
South Asian Sub 5044 A=0.5736 C=0.4264, T=0.0000
Other Sub 7234 A=0.6510 C=0.3490, T=0.0000


Help

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
TopMed Global Study-wide 264690 A=0.650561 C=0.349439
Allele Frequency Aggregator Total Global 208646 A=0.663061 C=0.336939, T=0.000000
Allele Frequency Aggregator European Sub 182138 A=0.666758 C=0.333242, T=0.000000
Allele Frequency Aggregator African Sub 9884 A=0.6656 C=0.3344, T=0.0000
Allele Frequency Aggregator Other Sub 7216 A=0.6509 C=0.3491, T=0.0000
Allele Frequency Aggregator South Asian Sub 5044 A=0.5736 C=0.4264, T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 2842 A=0.6826 C=0.3174, T=0.0000
Allele Frequency Aggregator Latin American 1 Sub 784 A=0.676 C=0.324, T=0.000
Allele Frequency Aggregator Asian Sub 738 A=0.358 C=0.642, T=0.000
gnomAD - Genomes Global Study-wide 139520 A=0.641335 C=0.358665
gnomAD - Genomes European Sub 75600 A=0.64271 C=0.35729
gnomAD - Genomes African Sub 41772 A=0.65771 C=0.34229
gnomAD - Genomes American Sub 13584 A=0.63464 C=0.36536
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=0.7279 C=0.2721
gnomAD - Genomes East Asian Sub 3102 A=0.3240 C=0.6760
gnomAD - Genomes Other Sub 2140 A=0.6411 C=0.3589
The PAGE Study Global Study-wide 78680 A=0.61397 C=0.38603
The PAGE Study AfricanAmerican Sub 32506 A=0.66000 C=0.34000
The PAGE Study Mexican Sub 10806 A=0.69239 C=0.30761
The PAGE Study Asian Sub 8316 A=0.2843 C=0.7157
The PAGE Study PuertoRican Sub 7916 A=0.7086 C=0.2914
The PAGE Study NativeHawaiian Sub 4532 A=0.3987 C=0.6013
The PAGE Study Cuban Sub 4228 A=0.6831 C=0.3169
The PAGE Study Dominican Sub 3828 A=0.6688 C=0.3312
The PAGE Study CentralAmerican Sub 2450 A=0.6404 C=0.3596
The PAGE Study SouthAmerican Sub 1982 A=0.6584 C=0.3416
The PAGE Study NativeAmerican Sub 1260 A=0.6500 C=0.3500
The PAGE Study SouthAsian Sub 856 A=0.526 C=0.474
14KJPN JAPANESE Study-wide 22952 A=0.28660 C=0.71340
8.3KJPN JAPANESE Study-wide 16760 A=0.25889 C=0.74111
1000Genomes_30x Global Study-wide 6404 A=0.5771 C=0.4229
1000Genomes_30x African Sub 1786 A=0.6736 C=0.3264
1000Genomes_30x Europe Sub 1266 A=0.6517 C=0.3483
1000Genomes_30x South Asian Sub 1202 A=0.5208 C=0.4792
1000Genomes_30x East Asian Sub 1170 A=0.3077 C=0.6923
1000Genomes_30x American Sub 980 A=0.696 C=0.304
1000Genomes Global Study-wide 5008 A=0.5661 C=0.4339
1000Genomes African Sub 1322 A=0.6702 C=0.3298
1000Genomes East Asian Sub 1008 A=0.3036 C=0.6964
1000Genomes Europe Sub 1006 A=0.6511 C=0.3489
1000Genomes South Asian Sub 978 A=0.516 C=0.484
1000Genomes American Sub 694 A=0.696 C=0.304
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.6299 C=0.3701
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.6443 C=0.3557
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.6521 C=0.3479
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.2986 C=0.7014, T=0.0000
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 A=0.6152 C=0.3848
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 A=0.321 C=0.679
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 A=0.640 C=0.360
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 A=0.751 C=0.249
HGDP-CEPH-db Supplement 1 Europe Sub 320 A=0.678 C=0.322
HGDP-CEPH-db Supplement 1 Africa Sub 242 A=0.715 C=0.285
HGDP-CEPH-db Supplement 1 America Sub 216 A=0.745 C=0.255
HGDP-CEPH-db Supplement 1 Oceania Sub 72 A=0.72 C=0.28
HapMap Global Study-wide 1892 A=0.5772 C=0.4228
HapMap American Sub 770 A=0.553 C=0.447
HapMap African Sub 692 A=0.705 C=0.295
HapMap Asian Sub 254 A=0.217 C=0.783
HapMap Europe Sub 176 A=0.699 C=0.301
Korean Genome Project KOREAN Study-wide 1832 A=0.2915 C=0.7085
Genome-wide autozygosity in Daghestan Global Study-wide 1130 A=0.6088 C=0.3912
Genome-wide autozygosity in Daghestan Daghestan Sub 624 A=0.611 C=0.389
Genome-wide autozygosity in Daghestan Near_East Sub 142 A=0.669 C=0.331
Genome-wide autozygosity in Daghestan Central Asia Sub 122 A=0.557 C=0.443
Genome-wide autozygosity in Daghestan Europe Sub 108 A=0.676 C=0.324
Genome-wide autozygosity in Daghestan South Asian Sub 98 A=0.46 C=0.54
Genome-wide autozygosity in Daghestan Caucasus Sub 36 A=0.72 C=0.28
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.640 C=0.360
CNV burdens in cranial meningiomas Global Study-wide 786 A=0.304 C=0.696
CNV burdens in cranial meningiomas CRM Sub 786 A=0.304 C=0.696
Northern Sweden ACPOP Study-wide 600 A=0.592 C=0.408
SGDP_PRJ Global Study-wide 340 A=0.335 C=0.665
Qatari Global Study-wide 216 A=0.796 C=0.204
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 98 A=0.59 C=0.41
Siberian Global Study-wide 46 A=0.33 C=0.67
The Danish reference pan genome Danish Study-wide 40 A=0.65 C=0.35
Help

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 19 NC_000019.10:g.17641880A>C
GRCh38.p14 chr 19 NC_000019.10:g.17641880A>T
GRCh37.p13 chr 19 NC_000019.9:g.17752689A>C
GRCh37.p13 chr 19 NC_000019.9:g.17752689A>T
UNC13A RefSeqGene NG_052872.1:g.51465T>G
UNC13A RefSeqGene NG_052872.1:g.51465T>A
Gene: UNC13A, unc-13 homolog A (minus strand)
Molecule type Change Amino acid[Codon] SO Term
UNC13A transcript variant 1 NM_001080421.3:c.2473-324…

NM_001080421.3:c.2473-324T>G

N/A Intron Variant
UNC13A transcript variant 2 NM_001387021.1:c.2467-324…

NM_001387021.1:c.2467-324T>G

N/A Intron Variant
UNC13A transcript variant 3 NM_001387022.1:c.2467-324…

NM_001387022.1:c.2467-324T>G

N/A Intron Variant
UNC13A transcript variant 4 NM_001387023.1:c.2467-324…

NM_001387023.1:c.2467-324T>G

N/A Intron Variant
UNC13A transcript variant X2 XM_011527810.3:c.2443-324…

XM_011527810.3:c.2443-324T>G

N/A Intron Variant
UNC13A transcript variant X3 XM_011527811.3:c.2473-324…

XM_011527811.3:c.2473-324T>G

N/A Intron Variant
UNC13A transcript variant X1 XM_017026502.2:c.2473-324…

XM_017026502.2:c.2473-324T>G

N/A Intron Variant
Help

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
Help

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 T
GRCh38.p14 chr 19 NC_000019.10:g.17641880= NC_000019.10:g.17641880A>C NC_000019.10:g.17641880A>T
GRCh37.p13 chr 19 NC_000019.9:g.17752689= NC_000019.9:g.17752689A>C NC_000019.9:g.17752689A>T
UNC13A RefSeqGene NG_052872.1:g.51465= NG_052872.1:g.51465T>G NG_052872.1:g.51465T>A
UNC13A transcript NM_001080421.2:c.2473-324= NM_001080421.2:c.2473-324T>G NM_001080421.2:c.2473-324T>A
UNC13A transcript variant 1 NM_001080421.3:c.2473-324= NM_001080421.3:c.2473-324T>G NM_001080421.3:c.2473-324T>A
UNC13A transcript variant 2 NM_001387021.1:c.2467-324= NM_001387021.1:c.2467-324T>G NM_001387021.1:c.2467-324T>A
UNC13A transcript variant 3 NM_001387022.1:c.2467-324= NM_001387022.1:c.2467-324T>G NM_001387022.1:c.2467-324T>A
UNC13A transcript variant 4 NM_001387023.1:c.2467-324= NM_001387023.1:c.2467-324T>G NM_001387023.1:c.2467-324T>A
UNC13A transcript variant X1 XM_005259821.1:c.2473-324= XM_005259821.1:c.2473-324T>G XM_005259821.1:c.2473-324T>A
UNC13A transcript variant X2 XM_011527810.3:c.2443-324= XM_011527810.3:c.2443-324T>G XM_011527810.3:c.2443-324T>A
UNC13A transcript variant X3 XM_011527811.3:c.2473-324= XM_011527811.3:c.2473-324T>G XM_011527811.3:c.2473-324T>A
UNC13A transcript variant X1 XM_017026502.2:c.2473-324= XM_017026502.2:c.2473-324T>G XM_017026502.2:c.2473-324T>A
Help

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#.

130 SubSNP, 24 Frequency submissions
No Submitter Submission ID Date (Build)
1 CSHL-HAPMAP ss20063642 Feb 28, 2004 (120)
2 SSAHASNP ss21541956 Apr 05, 2004 (121)
3 ILLUMINA ss66574345 Nov 29, 2006 (127)
4 ILLUMINA ss67024903 Nov 29, 2006 (127)
5 ILLUMINA ss67346914 Nov 29, 2006 (127)
6 PERLEGEN ss69225242 May 16, 2007 (127)
7 ILLUMINA ss70413160 May 16, 2007 (127)
8 ILLUMINA ss70577402 May 25, 2008 (130)
9 ILLUMINA ss71119071 May 16, 2007 (127)
10 ILLUMINA ss74958122 Dec 07, 2007 (129)
11 KRIBB_YJKIM ss85249255 Dec 15, 2007 (130)
12 BGI ss103427746 Feb 23, 2009 (131)
13 1000GENOMES ss111148009 Jan 25, 2009 (130)
14 ILLUMINA ss121584874 Dec 01, 2009 (131)
15 ILLUMINA ss153245926 Dec 01, 2009 (131)
16 GMI ss155674850 Dec 01, 2009 (131)
17 ILLUMINA ss159226891 Dec 01, 2009 (131)
18 ILLUMINA ss160287186 Dec 01, 2009 (131)
19 COMPLETE_GENOMICS ss167896994 Jul 04, 2010 (132)
20 ILLUMINA ss170180089 Jul 04, 2010 (132)
21 ILLUMINA ss172182815 Jul 04, 2010 (132)
22 BUSHMAN ss203695608 Jul 04, 2010 (132)
23 BCM-HGSC-SUB ss208381682 Jul 04, 2010 (132)
24 ILLUMINA ss209085214 Jul 04, 2010 (132)
25 1000GENOMES ss228065311 Jul 14, 2010 (132)
26 1000GENOMES ss237620373 Jul 15, 2010 (132)
27 1000GENOMES ss243838507 Jul 15, 2010 (132)
28 BL ss255534678 May 09, 2011 (134)
29 GMI ss283144076 May 04, 2012 (137)
30 ILLUMINA ss479785065 May 04, 2012 (137)
31 ILLUMINA ss479791567 May 04, 2012 (137)
32 ILLUMINA ss480365544 Sep 08, 2015 (146)
33 ILLUMINA ss484690953 May 04, 2012 (137)
34 EXOME_CHIP ss491543097 May 04, 2012 (137)
35 ILLUMINA ss536799746 Sep 08, 2015 (146)
36 TISHKOFF ss565888149 Apr 25, 2013 (138)
37 SSMP ss661744606 Apr 25, 2013 (138)
38 ILLUMINA ss778411792 Sep 08, 2015 (146)
39 ILLUMINA ss782792261 Sep 08, 2015 (146)
40 ILLUMINA ss783757945 Sep 08, 2015 (146)
41 ILLUMINA ss825382434 Apr 01, 2015 (144)
42 ILLUMINA ss832045047 Sep 08, 2015 (146)
43 ILLUMINA ss832739254 Jul 13, 2019 (153)
44 ILLUMINA ss833867078 Sep 08, 2015 (146)
45 EVA-GONL ss994143788 Aug 21, 2014 (142)
46 1000GENOMES ss1362569457 Aug 21, 2014 (142)
47 HAMMER_LAB ss1397755529 Sep 08, 2015 (146)
48 DDI ss1428352798 Apr 01, 2015 (144)
49 EVA_GENOME_DK ss1578577817 Apr 01, 2015 (144)
50 EVA_UK10K_ALSPAC ss1637668003 Apr 01, 2015 (144)
51 EVA_UK10K_TWINSUK ss1680662036 Apr 01, 2015 (144)
52 EVA_SVP ss1713654058 Apr 01, 2015 (144)
53 ILLUMINA ss1752276743 Sep 08, 2015 (146)
54 HAMMER_LAB ss1809236135 Sep 08, 2015 (146)
55 WEILL_CORNELL_DGM ss1937630949 Feb 12, 2016 (147)
56 ILLUMINA ss1959849130 Feb 12, 2016 (147)
57 GENOMED ss1968614298 Jul 19, 2016 (147)
58 JJLAB ss2029588661 Sep 14, 2016 (149)
59 ILLUMINA ss2094803756 Dec 20, 2016 (150)
60 ILLUMINA ss2095083742 Dec 20, 2016 (150)
61 USC_VALOUEV ss2158116581 Dec 20, 2016 (150)
62 HUMAN_LONGEVITY ss2224723827 Dec 20, 2016 (150)
63 SYSTEMSBIOZJU ss2629292849 Nov 08, 2017 (151)
64 ILLUMINA ss2633524470 Nov 08, 2017 (151)
65 ILLUMINA ss2633524471 Nov 08, 2017 (151)
66 ILLUMINA ss2633524472 Nov 08, 2017 (151)
67 GRF ss2702721039 Nov 08, 2017 (151)
68 GNOMAD ss2961103242 Nov 08, 2017 (151)
69 AFFY ss2985136069 Nov 08, 2017 (151)
70 AFFY ss2985768069 Nov 08, 2017 (151)
71 SWEGEN ss3017196865 Nov 08, 2017 (151)
72 ILLUMINA ss3021889752 Nov 08, 2017 (151)
73 BIOINF_KMB_FNS_UNIBA ss3028626840 Nov 08, 2017 (151)
74 CSHL ss3352225259 Nov 08, 2017 (151)
75 ILLUMINA ss3625738733 Oct 12, 2018 (152)
76 ILLUMINA ss3627902544 Oct 12, 2018 (152)
77 ILLUMINA ss3631497034 Oct 12, 2018 (152)
78 ILLUMINA ss3633176312 Oct 12, 2018 (152)
79 ILLUMINA ss3633886332 Oct 12, 2018 (152)
80 ILLUMINA ss3634728350 Oct 12, 2018 (152)
81 ILLUMINA ss3635573260 Oct 12, 2018 (152)
82 ILLUMINA ss3636416192 Oct 12, 2018 (152)
83 ILLUMINA ss3637324973 Oct 12, 2018 (152)
84 ILLUMINA ss3638219648 Oct 12, 2018 (152)
85 ILLUMINA ss3639116984 Oct 12, 2018 (152)
86 ILLUMINA ss3639568847 Oct 12, 2018 (152)
87 ILLUMINA ss3640435658 Oct 12, 2018 (152)
88 ILLUMINA ss3643193241 Oct 12, 2018 (152)
89 URBANLAB ss3650879799 Oct 12, 2018 (152)
90 ILLUMINA ss3652314600 Oct 12, 2018 (152)
91 ILLUMINA ss3653908022 Oct 12, 2018 (152)
92 EGCUT_WGS ss3684017898 Jul 13, 2019 (153)
93 EVA_DECODE ss3702462929 Jul 13, 2019 (153)
94 ILLUMINA ss3725715904 Jul 13, 2019 (153)
95 ACPOP ss3742904878 Jul 13, 2019 (153)
96 ILLUMINA ss3745028388 Jul 13, 2019 (153)
97 EVA ss3755877408 Jul 13, 2019 (153)
98 PAGE_CC ss3772003708 Jul 13, 2019 (153)
99 ILLUMINA ss3772525591 Jul 13, 2019 (153)
100 PACBIO ss3788485247 Jul 13, 2019 (153)
101 PACBIO ss3793402432 Jul 13, 2019 (153)
102 PACBIO ss3798289175 Jul 13, 2019 (153)
103 KHV_HUMAN_GENOMES ss3821131849 Jul 13, 2019 (153)
104 EVA ss3835382305 Apr 27, 2020 (154)
105 EVA ss3841311058 Apr 27, 2020 (154)
106 EVA ss3846815857 Apr 27, 2020 (154)
107 HGDP ss3847596214 Apr 27, 2020 (154)
108 SGDP_PRJ ss3887887676 Apr 27, 2020 (154)
109 KRGDB ss3937888615 Apr 27, 2020 (154)
110 KOGIC ss3980975999 Apr 27, 2020 (154)
111 EVA ss3984739853 Apr 27, 2021 (155)
112 EVA ss3985848274 Apr 27, 2021 (155)
113 EVA ss4017818419 Apr 27, 2021 (155)
114 TOPMED ss5069799518 Apr 27, 2021 (155)
115 TOMMO_GENOMICS ss5227025523 Apr 27, 2021 (155)
116 1000G_HIGH_COVERAGE ss5306702935 Oct 16, 2022 (156)
117 EVA ss5315965788 Oct 16, 2022 (156)
118 EVA ss5433911302 Oct 16, 2022 (156)
119 HUGCELL_USP ss5499303596 Oct 16, 2022 (156)
120 1000G_HIGH_COVERAGE ss5612181795 Oct 16, 2022 (156)
121 SANFORD_IMAGENETICS ss5624425595 Oct 16, 2022 (156)
122 SANFORD_IMAGENETICS ss5662089436 Oct 16, 2022 (156)
123 TOMMO_GENOMICS ss5785404734 Oct 16, 2022 (156)
124 YY_MCH ss5817458083 Oct 16, 2022 (156)
125 EVA ss5840335468 Oct 16, 2022 (156)
126 EVA ss5852227206 Oct 16, 2022 (156)
127 EVA ss5927515331 Oct 16, 2022 (156)
128 EVA ss5953507040 Oct 16, 2022 (156)
129 EVA ss5979541998 Oct 16, 2022 (156)
130 EVA ss5981038423 Oct 16, 2022 (156)
131 1000Genomes NC_000019.9 - 17752689 Oct 12, 2018 (152)
132 1000Genomes_30x NC_000019.10 - 17641880 Oct 16, 2022 (156)
133 The Avon Longitudinal Study of Parents and Children NC_000019.9 - 17752689 Oct 12, 2018 (152)
134 Genome-wide autozygosity in Daghestan NC_000019.8 - 17613689 Apr 27, 2020 (154)
135 Genetic variation in the Estonian population NC_000019.9 - 17752689 Oct 12, 2018 (152)
136 The Danish reference pan genome NC_000019.9 - 17752689 Apr 27, 2020 (154)
137 gnomAD - Genomes NC_000019.10 - 17641880 Apr 27, 2021 (155)
138 Genome of the Netherlands Release 5 NC_000019.9 - 17752689 Apr 27, 2020 (154)
139 HGDP-CEPH-db Supplement 1 NC_000019.8 - 17613689 Apr 27, 2020 (154)
140 HapMap NC_000019.10 - 17641880 Apr 27, 2020 (154)
141 KOREAN population from KRGDB NC_000019.9 - 17752689 Apr 27, 2020 (154)
142 Korean Genome Project NC_000019.10 - 17641880 Apr 27, 2020 (154)
143 Northern Sweden NC_000019.9 - 17752689 Jul 13, 2019 (153)
144 The PAGE Study NC_000019.10 - 17641880 Jul 13, 2019 (153)
145 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000019.9 - 17752689 Apr 27, 2021 (155)
146 CNV burdens in cranial meningiomas NC_000019.9 - 17752689 Apr 27, 2021 (155)
147 Qatari NC_000019.9 - 17752689 Apr 27, 2020 (154)
148 SGDP_PRJ NC_000019.9 - 17752689 Apr 27, 2020 (154)
149 Siberian NC_000019.9 - 17752689 Apr 27, 2020 (154)
150 8.3KJPN NC_000019.9 - 17752689 Apr 27, 2021 (155)
151 14KJPN NC_000019.10 - 17641880 Oct 16, 2022 (156)
152 TopMed NC_000019.10 - 17641880 Apr 27, 2021 (155)
153 UK 10K study - Twins NC_000019.9 - 17752689 Oct 12, 2018 (152)
154 ALFA NC_000019.10 - 17641880 Apr 27, 2021 (155)
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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)
rs60281548 May 25, 2008 (130)
rs74253230 Dec 02, 2009 (131)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
225114, 274106, ss111148009, ss167896994, ss203695608, ss208381682, ss255534678, ss283144076, ss479785065, ss825382434, ss1397755529, ss1713654058, ss3639116984, ss3639568847, ss3643193241, ss3847596214 NC_000019.8:17613688:A:C NC_000019.10:17641879:A:C (self)
75955472, 42077065, 29756146, 4762657, 18745080, 45066009, 16189743, 1074201, 289406, 19672871, 39904656, 10632935, 84994830, 42077065, ss228065311, ss237620373, ss243838507, ss479791567, ss480365544, ss484690953, ss491543097, ss536799746, ss565888149, ss661744606, ss778411792, ss782792261, ss783757945, ss832045047, ss832739254, ss833867078, ss994143788, ss1362569457, ss1428352798, ss1578577817, ss1637668003, ss1680662036, ss1752276743, ss1809236135, ss1937630949, ss1959849130, ss1968614298, ss2029588661, ss2094803756, ss2095083742, ss2158116581, ss2629292849, ss2633524470, ss2633524471, ss2633524472, ss2702721039, ss2961103242, ss2985136069, ss2985768069, ss3017196865, ss3021889752, ss3352225259, ss3625738733, ss3627902544, ss3631497034, ss3633176312, ss3633886332, ss3634728350, ss3635573260, ss3636416192, ss3637324973, ss3638219648, ss3640435658, ss3652314600, ss3653908022, ss3684017898, ss3742904878, ss3745028388, ss3755877408, ss3772525591, ss3788485247, ss3793402432, ss3798289175, ss3835382305, ss3841311058, ss3887887676, ss3937888615, ss3984739853, ss3985848274, ss4017818419, ss5227025523, ss5315965788, ss5433911302, ss5624425595, ss5662089436, ss5840335468, ss5953507040, ss5979541998, ss5981038423 NC_000019.9:17752688:A:C NC_000019.10:17641879:A:C (self)
99707730, 535694830, 1674459, 37354000, 1225177, 119241838, 285345182, 9846351586, ss2224723827, ss3028626840, ss3650879799, ss3702462929, ss3725715904, ss3772003708, ss3821131849, ss3846815857, ss3980975999, ss5069799518, ss5306702935, ss5499303596, ss5612181795, ss5785404734, ss5817458083, ss5852227206, ss5927515331 NC_000019.10:17641879:A:C NC_000019.10:17641879:A:C (self)
ss20063642, ss21541956 NT_011295.10:9015490:A:C NC_000019.10:17641879:A:C (self)
ss66574345, ss67024903, ss67346914, ss69225242, ss70413160, ss70577402, ss71119071, ss74958122, ss85249255, ss103427746, ss121584874, ss153245926, ss155674850, ss159226891, ss160287186, ss170180089, ss172182815, ss209085214 NT_011295.11:9015490:A:C NC_000019.10:17641879:A:C (self)
45066009, ss3937888615 NC_000019.9:17752688:A:T NC_000019.10:17641879:A:T (self)
9846351586 NC_000019.10:17641879:A:T NC_000019.10:17641879:A:T (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

18 citations for rs12608932
PMID Title Author Year Journal
19734901 Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. van Es MA et al. 2009 Nature genetics
20801717 Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study. Shatunov A et al. 2010 The Lancet. Neurology
21295378 Replication analysis of SNPs on 9p21.2 and 19p13.3 with amyotrophic lateral sclerosis in East Asians. Iida A et al. 2011 Neurobiology of aging
22118904 UNC13A is a modifier of survival in amyotrophic lateral sclerosis. Diekstra FP et al. 2012 Neurobiology of aging
22125427 An overview of DNA repair in amyotrophic lateral sclerosis. Coppedè F et al. 2011 TheScientificWorldJournal
22470424 A high-density genome-wide association screen of sporadic ALS in US veterans. Kwee LC et al. 2012 PloS one
22509407 Mapping of gene expression reveals CYP27A1 as a susceptibility gene for sporadic ALS. Diekstra FP et al. 2012 PloS one
22921269 UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study. Chiò A et al. 2013 Neurobiology of aging
24493373 Association analysis of four candidate genetic variants with sporadic amyotrophic lateral sclerosis in a Chinese population. Chen X et al. 2014 Neurological sciences
24806473 CX3CR1 is a modifying gene of survival and progression in amyotrophic lateral sclerosis. Lopez-Lopez A et al. 2014 PloS one
25174004 Genetic variability in the regulation of gene expression in ten regions of the human brain. Ramasamy A et al. 2014 Nature neuroscience
25239657 Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene. van Blitterswijk M et al. 2014 Molecular neurodegeneration
26162714 UNC13A confers risk for sporadic ALS and influences survival in a Spanish cohort. Vidal-Taboada JM et al. 2015 Journal of neurology
30368160 UNC13A polymorphism contributes to frontotemporal disease in sporadic amyotrophic lateral sclerosis. Placek K et al. 2019 Neurobiology of aging
31201598 UNC13A variant rs12608932 is associated with increased risk of amyotrophic lateral sclerosis and reduced patient survival: a meta-analysis. Yang B et al. 2019 Neurological sciences
32627229 The Distinct Traits of the UNC13A Polymorphism in Amyotrophic Lateral Sclerosis. Tan HHG et al. 2020 Annals of neurology
33270986 Machine learning suggests polygenic risk for cognitive dysfunction in amyotrophic lateral sclerosis. Placek K et al. 2021 EMBO molecular medicine
35754054 Genetic factors for survival in amyotrophic lateral sclerosis: an integrated approach combining a systematic review, pairwise and network meta-analysis. Su WM et al. 2022 BMC medicine
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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.

Software version is: 2.0.1.post761+d5e8e07