SLC10A2, solute carrier family 10 member 2, 6555

N. diseases: 66; N. variants: 9
Source: ALL
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: 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: rs56398830
rs56398830
0.925 0.040 13 103049340 missense variant G/A;T snv 1.0E-02
CUI: C0242216
Disease: Biliary calculi
Biliary calculi
Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2018 2018
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
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: rs56398830
rs56398830
0.925 0.040 13 103049340 missense variant G/A;T snv 1.0E-02
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis
Digestive System Diseases 0.020 1.000 2 2018 2019
dbSNP: rs9514089
rs9514089
0.882 0.080 13 103058487 intron variant T/C snv 0.41
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis
Digestive System Diseases 0.020 0.500 2 2009 2011
dbSNP: rs9514089
rs9514089
0.882 0.080 13 103058487 intron variant T/C snv 0.41
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis
Digestive System Diseases 0.020 0.500 2 2009 2011
dbSNP: rs1424665740
rs1424665740
0.925 0.040 13 103066068 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0023530
Disease: Leukopenia
Leukopenia
Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1424665740
rs1424665740
0.925 0.040 13 103066068 missense variant T/C snv 4.0E-06 7.0E-06
CUI: C0027947
Disease: Neutropenia
Neutropenia
Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs188096
rs188096
1.000 0.080 13 103052694 missense variant A/C snv 0.85 0.89
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine
Digestive System Diseases; Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs41281678
rs41281678
1.000 0.080 13 103052700 synonymous variant G/A snv 1.9E-02 2.7E-02
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine
Digestive System Diseases; Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs55971546
rs55971546
1.000 0.040 13 103065958 missense variant C/A;T snv 4.0E-06; 2.7E-02
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis
Digestive System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs56398830
rs56398830
0.925 0.040 13 103049340 missense variant G/A;T snv 1.0E-02
CUI: C0947622
Disease: Cholecystolithiasis
Cholecystolithiasis
Digestive System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs9514089
rs9514089
0.882 0.080 13 103058487 intron variant T/C snv 0.41
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011