Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv 52
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv 46
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 42
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs886039469
KCNMA1-AS1 ; KCNMA1
0.701 0.560 10 76891709 missense variant T/C snv 35
rs63750687
PSEN1
0.752 0.200 14 73217137 missense variant C/A;G;T snv 33
rs61764370
KRAS
0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 29
rs1553284997
DIPK1A ; RPL5
0.790 0.400 1 92833544 splice acceptor variant G/C snv 17
rs1131692034
EDA
0.790 0.160 X 69616488 stop gained C/A snv 14
rs1554317931
GLI3
0.851 0.080 7 42045460 frameshift variant G/- delins 11
rs1218912272
FLG-AS1 ; FLG
0.925 0.160 1 152314342 stop gained T/A snv 4.0E-06 8
rs1114167453
PPP1R13L
1.000 19 45385569 stop gained G/C snv 4