Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 144
rs762846821
TP53
0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 57
rs2057482
HIF1A-AS2 ; HIF1A-AS3 ; HIF1A
0.701 0.440 14 61747130 3 prime UTR variant T/C snv 0.84 0.80 21
rs1284806277
MOK
0.827 0.200 14 102251978 missense variant A/G snv 1.4E-05 13