Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs2736100
TERT
0.550 0.880 5 1286401 3 prime UTR variant C/A snv 0.52 83
rs17879961
CHEK2
0.597 0.480 22 28725099 missense variant A/C;G snv 4.1E-03 53