Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587776689
rs587776689
PTCH1
0.882 0.160 9 95453587 missense variant T/A;G snv
CUI: C0004779
Disease: Basal Cell Nevus Syndrome
Basal Cell Nevus Syndrome 		0.700 1.000 5 1996 2004
dbSNP: rs587776689
rs587776689
PTCH1
0.882 0.160 9 95453587 missense variant T/A;G snv
CUI: C2751544
Disease: BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1
BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1 		0.700 1.000 2 1996 1998
dbSNP: rs587776689
rs587776689
PTCH1
0.882 0.160 9 95453587 missense variant T/A;G snv
CUI: C3838465
Disease: BASAL CELL CARCINOMA, SOMATIC
BASAL CELL CARCINOMA, SOMATIC 		0.700 0