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: rs121912731
rs121912731
1.000 0.080 12 110292122 stop gained C/T snv
CUI: C0022595
Disease: Keratosis Follicularis
Keratosis Follicularis
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0