Disease: Waardenburg Syndrome Type 1
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs104893651
CCDC140 ; PAX3
0.925 0.040 2 222297048 missense variant G/A snv 2
rs1228590199
PAX3 ; LOC107985991
0.925 0.040 2 222221372 missense variant G/A snv 4.0E-06 7.0E-06 2