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: rs863225055
rs863225055
PTCH1
3 0.925 0.160 9 95476760 frameshift variant AAAAGGGATTC/- delins 0.700 0