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
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs1800796
IL6-AS1 ; STEAP1B ; IL6
0.555 0.760 7 22726627 non coding transcript exon variant G/C snv 9.9E-02 74
rs1130233
AKT1
0.742 0.480 14 104773557 synonymous variant C/T snv 0.30 0.23 13