Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 35
rs1136201
ERBB2
0.645 0.280 17 39723335 missense variant A/G;T snv 0.20 34
rs79105258
CUX2
12 111280427 intron variant C/A;T snv 24
rs550057
ABO
0.925 0.080 9 133271182 intron variant T/A;C snv 11
rs16998073 0.925 0.120 4 80263187 upstream gene variant A/G;T snv 10
rs2001945 8 125465736 upstream gene variant G/A;C;T snv 10
rs9472135
LOC107986598
0.925 0.120 6 43842065 intron variant T/A;C;G snv 9
rs11755724
RREB1
0.807 0.320 6 7118757 intron variant A/G;T snv 7
rs13108218
HGFAC
4 3442204 intron variant A/G;T snv 7
rs1394125
UBE2Q2
0.882 0.200 15 75866642 intron variant G/A;T snv 7
rs881858
LOC105375069 ; LOC107986598
0.882 0.200 6 43838872 intron variant G/A;C snv 7
rs4886755
NRG4
0.925 0.120 15 76005791 non coding transcript exon variant A/G;T snv 0.49 6
rs7740107
L3MBTL3
1.000 0.080 6 130053316 intron variant T/A;G snv 6
rs12922822
UMOD
1.000 0.040 16 20356323 upstream gene variant C/A;T snv 5
rs149454410
SLC2A9
0.925 0.120 4 9942000 missense variant C/G;T snv 4.0E-05; 3.2E-04 5
rs186459505
SFMBT1
0.925 0.120 3 52907083 missense variant G/A;T snv 1.1E-04; 4.0E-06 5
rs497309
CYP21A2 ; C2
0.882 0.240 6 31924707 intron variant A/C;G snv 5
rs7422339
CPS1
1.000 0.080 2 210675783 missense variant C/A snv 5
rs10821905
A1CF
0.925 0.120 10 50886333 upstream gene variant G/A;T snv 4
rs11554266
GNAS
1.000 0.040 20 58903791 splice region variant C/G;T snv 4.0E-06; 2.3E-03 4
rs141310123
NFATC1
0.925 0.120 18 79411390 missense variant C/A;T snv 2.1E-04; 4.8E-06 4
rs201874364
ETV5
1.000 0.040 3 186065822 missense variant C/A;T snv 4.0E-06; 7.2E-05 4
rs202007714
SLC25A26 ; LRIG1
1.000 0.040 3 66383098 missense variant G/A;C snv 1.4E-04; 4.0E-06 4
rs227731 0.882 0.120 17 56695877 intergenic variant T/A;G snv 4
rs2279463
SLC22A2
1.000 0.080 6 160247357 intron variant A/G;T snv 4