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: rs764109067
rs764109067
0.851 0.280 3 94036664 missense variant G/A;T snv 4.0E-06
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0