Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs401681
CLPTM1L
0.620 0.640 5 1321972 intron variant C/T snv 0.48 42