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: rs104893654
rs104893654
PAX3 ; CCDC140
1 1.000 0.040 2 222297031 missense variant A/G snv 0.800 1.000 3 1993 2003