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: rs71581941
rs71581941
1.000 0.080 12 21222355 stop gained C/A;T snv 5.5E-06; 1.6E-03
CUI: C0220991
Disease: Rotor Syndrome
Rotor Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2007 2015
dbSNP: rs183501729
rs183501729
1.000 0.080 12 21196975 stop gained C/T snv 6.0E-05 6.3E-05
CUI: C0220991
Disease: Rotor Syndrome
Rotor Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0