Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104893652
rs104893652
PAX3 ; CCDC140
1 1.000 0.200 2 222297158 missense variant G/C snv 0.800 1.000 1 1996 1996