Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587782995
PURA
0.708 0.360 5 140114480 missense variant T/C snv 42
rs370717845
HGSNAT
0.763 0.320 8 43161462 missense variant G/A snv 33
rs1554110735
TFAP2A
0.776 0.200 6 10398693 frameshift variant TT/- delins 13
rs35135520
TIMM50
0.827 0.200 19 39480879 stop gained C/A;G;T snv 3.1E-03; 4.6E-06 12
rs776019250
TIMM50
0.827 0.200 19 39482885 stop gained G/C;T snv 4.0E-06 12