rs863225055, PTCH1

N. diseases: 3
Source: CLINVAR ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Basal cell nevus
CUI: C1862314
Disease: Basal cell nevus
1 0.925 0.160 9 95476760 frameshift variant AAAAGGGATTC/- delins 0.700 0
Basal Cell Nevus Syndrome
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
117 0.925 0.160 9 95476760 frameshift variant AAAAGGGATTC/- delins 0.700 0
Pits of palms and soles
CUI: C3805371
Disease: Pits of palms and soles
2 0.925 0.160 9 95476760 frameshift variant AAAAGGGATTC/- delins 0.700 0