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: rs121918457
rs121918457
0.701 0.280 12 112488466 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs397507542
rs397507542
0.790 0.320 12 112489069 missense variant G/T snv
CUI: C0221263
Disease: Cafe-au-Lait Spots
Cafe-au-Lait Spots
Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 0