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: rs965513
rs965513
PTCSC2
15 0.742 0.200 9 97793827 intron variant A/G;T snv 0.030 1.000 3 2014 2019
dbSNP: rs10817938
rs10817938
PTCSC2
5 0.882 0.080 9 97700127 non coding transcript exon variant T/C snv 3.2E-02 0.010 1.000 1 2016 2016
dbSNP: rs768827923
rs768827923
PIK3CD
6 0.851 0.080 1 9721816 missense variant T/G snv 0.010 1.000 1 2018 2018
dbSNP: rs2660852
rs2660852 		3 12 96051770 intergenic variant C/A snv 0.34 0.010 1.000 1 2016 2016
dbSNP: rs768949233
rs768949233
ADAM17 ; IAH1
5 0.851 0.040 2 9490466 missense variant G/C;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs4244285
rs4244285
CYP2C19
18 0.695 0.360 10 94781859 synonymous variant G/A;C snv 0.18 0.010 1.000 1 2018 2018
dbSNP: rs765431049
rs765431049
GNGT1 ; TFPI2 ; LOC105375401
4 0.925 0.040 7 93890271 missense variant C/T snv 1.6E-05 0.010 1.000 1 2004 2004
dbSNP: rs35301225
rs35301225
MIR34A ; MIR34AHG
5 0.882 0.080 1 9151743 mature miRNA variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs9589207
rs9589207
MIR19A ; MIR19B1 ; MIR20A ; MIR92A1 ; MIR17HG
4 0.925 0.080 13 91351335 mature miRNA variant G/A;C snv 5.4E-03; 4.0E-06 0.010 < 0.001 1 2016 2016
dbSNP: rs62054619
rs62054619
GAS8-AS1 ; GAS8
2 1.000 0.080 16 90029890 non coding transcript exon variant G/A snv 0.14 0.010 1.000 1 2019 2019
dbSNP: rs373572
rs373572
RAD18
6 0.882 0.120 3 8913705 missense variant C/T snv 0.68 0.70 0.010 1.000 1 2012 2012
dbSNP: rs121909222
rs121909222
PTEN
13 0.742 0.240 10 87933127 missense variant A/G snv 0.010 1.000 1 2016 2016
dbSNP: rs759435862
rs759435862
KIDINS220
5 0.925 0.080 2 8776852 missense variant C/A;T snv 2.0E-05 0.010 1.000 1 2016 2016
dbSNP: rs1490204625
rs1490204625
RASA1
5 0.925 0.160 5 87268486 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs1172398253
rs1172398253
CCN1
4 0.925 0.080 1 85582045 missense variant C/T snv 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs1056629
rs1056629
MPHOSPH6
6 0.827 0.120 16 82148499 3 prime UTR variant T/C snv 0.14 0.010 1.000 1 2016 2016
dbSNP: rs753066745
rs753066745
SH3BGRL
2 X 81277164 missense variant C/T snv 1.7E-05 9.5E-06 0.010 1.000 1 2016 2016
dbSNP: rs1053129
rs1053129
DHFR
1 5 80626901 3 prime UTR variant C/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs773895706
rs773895706
RASGRF1
3 0.925 0.080 15 79090236 missense variant G/A snv 4.2E-06 0.010 1.000 1 2010 2010
dbSNP: rs3743073
rs3743073
CHRNA3
11 0.807 0.120 15 78617197 intron variant G/T snv 0.61 0.010 1.000 1 2010 2010
dbSNP: rs115785973
rs115785973
SOCS3
3 0.925 0.080 17 78357871 3 prime UTR variant C/G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs370535310
rs370535310
PSAT1
3 0.925 0.080 9 78304854 missense variant C/T snv 2.1E-05 0.010 1.000 1 2013 2013
dbSNP: rs121913492
rs121913492
GNAQ
11 0.790 0.160 9 77794572 missense variant T/A;C;G snv 0.010 1.000 1 2019 2019
dbSNP: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.030 1.000 3 2010 2014
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2010 2014