PTCH1, patched 1, 5727

N. diseases: 604; N. variants: 194
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs201125580
rs201125580
1.000 0.040 9 95467191 missense variant C/A;T snv 4.0E-06; 3.8E-04
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
Neoplasms 0.700 0
dbSNP: rs779417284
rs779417284
1.000 0.040 9 95449149 missense variant C/T snv 2.4E-05
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
Neoplasms 0.700 0