Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs387907196
EXOSC3
0.807 0.080 9 37784953 missense variant C/G snv 2.0E-05 12
rs141138948
EXOSC3
0.807 0.120 9 37783993 missense variant T/C;G snv 4.1E-04 9
rs374550999
EXOSC3
0.925 0.080 9 37784807 missense variant C/A;G snv 1.5E-04 2