rs1131690985, PTCH1

N. diseases: 3
Source: ALL
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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.925 0.200 9 95449891 missense variant C/T snv 0.700 1.000 4 2000 2009
Basal Cell Nevus Syndrome
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
124 0.925 0.200 9 95449891 missense variant C/T snv 0.010 1.000 1 2000 2000
Cyst
CUI: C0010709
Disease: Cyst
6 0.925 0.200 9 95449891 missense variant C/T snv 0.010 1.000 1 2000 2000