Source: CLINVAR

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: rs1057519880
rs1057519880
IRF3 ; BCL2L12
0.925 0.080 19 49665875 missense variant C/T snv 4.0E-06
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519880
rs1057519880
IRF3 ; BCL2L12
0.925 0.080 19 49665875 missense variant C/T snv 4.0E-06
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		0.700 1.000 1 2016 2016