Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs4647924
FGFR3
0.600 0.520 4 1801844 missense variant C/A;G;T snv 4.2E-06; 4.2E-06 49
rs542652468
ATP1A3
0.882 19 41986177 missense variant G/A;T snv 6
rs886039469
KCNMA1-AS1 ; KCNMA1
0.701 0.560 10 76891709 missense variant T/C snv 35
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs886041095
GRIN2B
0.827 0.160 12 13571930 missense variant C/T snv 11