Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins 43
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv 40
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv 27
rs794727931
ALG8
0.790 0.240 11 78112692 missense variant A/C snv 19
rs1555783467
SLC52A3
0.882 0.120 20 761120 missense variant C/T snv 6
rs879255368
ATP1A3
19 41984953 missense variant C/G;T snv 5
rs1057516038
KIAA0586
0.925 14 58444158 stop gained C/A;T snv 5
rs1799807
BCHE
0.925 0.240 3 165830741 missense variant T/C snv 1.2E-02 1.2E-02 2