Source: CLINVAR

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: rs1564031259
rs1564031259
PTCH1 ; LOC100507346
1.000 0.160 9 95467400 splice acceptor variant AAAAAGGAAGATCACCACTACCTGGAACAGAAGAGGCACAAGGTCAGACCCCAG/- delins
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 0