rs56126236, PTCH2

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 0.160 1 44829444 frameshift variant GA/- delins 6.3E-05 0.700 1.000 1 2013 2013
Medulloblastoma
CUI: C0025149
Disease: Medulloblastoma
115 0.925 0.160 1 44829444 frameshift variant GA/- delins 6.3E-05 0.700 0