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: rs483353013
rs483353013
1.000 0.080 12 57175646 missense variant A/C;G snv 4.1E-06
CUI: C0263428
Disease: Burnett Schwartz Berberian syndrome
Burnett Schwartz Berberian syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 1 2015 2015