Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs863225054
rs863225054
PTCH1
1.000 0.160 9 95477548 missense variant T/C snv
CUI: C3805371
Disease: Pits of palms and soles
Pits of palms and soles 		0.700 0
dbSNP: rs863225054
rs863225054
PTCH1
1.000 0.160 9 95477548 missense variant T/C snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0