Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1048638
rs1048638
CA9
10 0.807 0.160 9 35681125 3 prime UTR variant C/A;G snv 0.010 1.000 1 2017 2017
dbSNP: rs7248320
rs7248320
CARD8 ; CARD8-AS1
8 0.776 0.160 19 48256972 non coding transcript exon variant G/A snv 0.65 0.010 1.000 1 2015 2015
dbSNP: rs1049216
rs1049216
CASP3
9 0.790 0.200 4 184628935 3 prime UTR variant A/G snv 0.27 0.010 1.000 1 2017 2017
dbSNP: rs9344
rs9344
CCND1
34 0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 0.040 1.000 4 2009 2018
dbSNP: rs1799864
rs1799864
CCR2
68 0.572 0.680 3 46357717 missense variant G/A snv 0.13 0.12 0.020 1.000 2 2010 2016
dbSNP: rs333
rs333
CCR5 ; CCR5AS
23 0.667 0.520 3 46373453 frameshift variant GTCAGTATCAATTCTGGAAGAATTTCCAGACA/- delins 7.3E-02 0.010 1.000 1 2016 2016
dbSNP: rs1883832
rs1883832
CD40
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.010 1.000 1 2017 2017
dbSNP: rs3765459
rs3765459
CD40
7 0.807 0.280 20 46128768 intron variant G/A;C snv 0.22 0.010 1.000 1 2017 2017
dbSNP: rs13706
rs13706
CDC6
11 0.776 0.200 17 40300899 missense variant G/A;C snv 0.15; 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs42032
rs42032
CDK6
3 0.882 0.080 7 92608112 3 prime UTR variant G/A snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs42033
rs42033
CDK6
5 0.882 0.080 7 92608219 3 prime UTR variant A/T snv 0.16 0.010 1.000 1 2019 2019
dbSNP: rs8179
rs8179
CDK6
8 0.882 0.080 7 92606850 3 prime UTR variant T/A;C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs1801270
rs1801270
CDKN1A
22 0.689 0.400 6 36684194 missense variant C/A;T snv 0.15; 4.4E-05 0.020 0.500 2 2012 2016
dbSNP: rs1059234
rs1059234
CDKN1A
10 0.790 0.120 6 36685820 3 prime UTR variant C/T snv 0.15 0.13 0.010 1.000 1 2012 2012
dbSNP: rs3176352
rs3176352
CDKN1A
7 0.807 0.120 6 36684562 intron variant C/A;G;T snv 8.0E-06; 0.37; 2.0E-05 0.010 1.000 1 2012 2012
dbSNP: rs4777498
rs4777498
CELF6
3 0.882 0.080 15 72285731 3 prime UTR variant C/A snv 0.74 0.010 1.000 1 2017 2017
dbSNP: rs402710
rs402710
CLPTM1L
18 0.716 0.320 5 1320607 non coding transcript exon variant C/T snv 0.33 0.38 0.010 < 0.001 1 2012 2012
dbSNP: rs4282438
rs4282438
COL11A2P1
6 0.807 0.280 6 33104395 intron variant T/G snv 3.1E-02 0.030 1.000 3 2014 2016
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2016 2016
dbSNP: rs1205
rs1205
CRP
46 0.602 0.680 1 159712443 3 prime UTR variant C/T snv 0.30 0.010 1.000 1 2011 2011
dbSNP: rs1417938
rs1417938
CRP
10 0.776 0.320 1 159714396 intron variant T/A;C snv 0.28 0.010 1.000 1 2011 2011
dbSNP: rs1800947
rs1800947
CRP
28 0.683 0.440 1 159713648 splice region variant C/A;G;T snv 4.4E-05; 5.1E-02; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs7372209
rs7372209
CTDSPL ; MIR26A1
7 0.807 0.160 3 37969217 intron variant T/C snv 0.77 0.010 1.000 1 2014 2014
dbSNP: rs1207011218
rs1207011218
CTLA4
12 0.742 0.440 2 203870794 synonymous variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs231775
rs231775
CTLA4
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2018 2018