rs1249050389, PTCH1

N. diseases: 2
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.
Basal Cell Nevus Syndrome
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
124 0.925 0.240 9 95485696 stop gained G/C snv 0.010 1.000 1 2018 2018
Polycystic Kidney, Autosomal Dominant
CUI: C0085413
Disease: Polycystic Kidney, Autosomal Dominant
35 0.925 0.240 9 95485696 stop gained G/C snv 0.010 1.000 1 2018 2018