rs587776689, 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.
Basal Cell Nevus Syndrome
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
124 0.882 0.160 9 95453587 missense variant T/A;G snv 0.700 1.000 5 1996 2004
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1
CUI: C2751544
Disease: BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1
3 0.882 0.160 9 95453587 missense variant T/A;G snv 0.700 1.000 2 1996 1998
BASAL CELL CARCINOMA, SOMATIC
CUI: C3838465
Disease: BASAL CELL CARCINOMA, SOMATIC
7 0.882 0.160 9 95453587 missense variant T/A;G snv 0.700 0