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: rs72547505
rs72547505
1.000 0.120 13 103049423 missense variant G/A;T snv 5.3E-04; 4.0E-06
CUI: C2750087
Disease: Bile Acid Malabsorption, Primary
Bile Acid Malabsorption, Primary
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs121917848
rs121917848
1.000 0.120 13 103051290 missense variant A/G snv 4.0E-06
CUI: C2750087
Disease: Bile Acid Malabsorption, Primary
Bile Acid Malabsorption, Primary
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 1 1997 1997
dbSNP: rs387906390
rs387906390
1.000 0.120 13 103052619 splice donor variant CTT/AAG mnv
CUI: C2750087
Disease: Bile Acid Malabsorption, Primary
Bile Acid Malabsorption, Primary
Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 0