CTSH, cathepsin H, 1512

N. diseases: 63; N. variants: 6
Disease: Basal cell carcinoma ×
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: rs2289702
rs2289702 		0.851 0.120 15 78944951 missense variant C/T snv 9.3E-02 7.8E-02
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		Neoplasms 0.700 1.000 1 2019 2019