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: rs267600971
rs267600971
CYP21A2 ; DXO ; STK19
0.882 0.080 6 31972346 missense variant G/A snv
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		0.700 1.000 1 2016 2016
dbSNP: rs267600971
rs267600971
CYP21A2 ; DXO ; STK19
0.882 0.080 6 31972346 missense variant G/A snv
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		0.700 1.000 1 2016 2016