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
rs121913530
KRAS
0.583 0.640 12 25245351 missense variant C/A;G;T snv 63
rs11571833
BRCA2
0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 43
rs10936599
MYNN
0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 32
rs121913495
GNAS
0.672 0.400 20 58909366 missense variant G/A;T snv 28