SLC23A1, solute carrier family 23 member 1, 9963

N. diseases: 22; N. variants: 3
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: rs10063949
rs10063949 		0.882 0.080 5 139383837 intron variant T/C snv 0.48
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs10063949
rs10063949 		0.882 0.080 5 139383837 intron variant T/C snv 0.48
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs10063949
rs10063949 		0.882 0.080 5 139383837 intron variant T/C snv 0.48
CUI: C0339573
Disease: Glaucoma, Primary Open Angle
Glaucoma, Primary Open Angle 		Eye Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs10063949
rs10063949 		0.882 0.080 5 139383837 intron variant T/C snv 0.48
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs33972313
rs33972313 		0.790 0.160 5 139379813 missense variant C/A;G;T snv 4.0E-06; 2.7E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs33972313
rs33972313 		0.790 0.160 5 139379813 missense variant C/A;G;T snv 4.0E-06; 2.7E-02
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs33972313
rs33972313 		0.790 0.160 5 139379813 missense variant C/A;G;T snv 4.0E-06; 2.7E-02
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2018 2018
dbSNP: rs33972313
rs33972313 		0.790 0.160 5 139379813 missense variant C/A;G;T snv 4.0E-06; 2.7E-02
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs33972313
rs33972313 		0.790 0.160 5 139379813 missense variant C/A;G;T snv 4.0E-06; 2.7E-02
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs33972313
rs33972313 		0.790 0.160 5 139379813 missense variant C/A;G;T snv 4.0E-06; 2.7E-02
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs33972313
rs33972313 		0.790 0.160 5 139379813 missense variant C/A;G;T snv 4.0E-06; 2.7E-02
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs33972313
rs33972313 		0.790 0.160 5 139379813 missense variant C/A;G;T snv 4.0E-06; 2.7E-02
CUI: C0521707
Disease: Bilateral cataracts (disorder)
Bilateral cataracts (disorder) 		Eye Diseases 0.010 1.000 1 2019 2019
dbSNP: rs6596473
rs6596473 		0.807 0.120 5 139374887 intron variant G/C;T snv
CUI: C0266929
Disease: Chronic Periodontitis
Chronic Periodontitis 		Stomatognathic Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs6596473
rs6596473 		0.807 0.120 5 139374887 intron variant G/C;T snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs6596473
rs6596473 		0.807 0.120 5 139374887 intron variant G/C;T snv
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs6596473
rs6596473 		0.807 0.120 5 139374887 intron variant G/C;T snv
CUI: C0031106
Disease: Aggressive Periodontitis
Aggressive Periodontitis 		Stomatognathic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs6596473
rs6596473 		0.807 0.120 5 139374887 intron variant G/C;T snv
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs6596473
rs6596473 		0.807 0.120 5 139374887 intron variant G/C;T snv
CUI: C0001342
Disease: Acute periodontitis
Acute periodontitis 		Stomatognathic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs6596473
rs6596473 		0.807 0.120 5 139374887 intron variant G/C;T snv
CUI: C0086543
Disease: Cataract
Cataract 		Eye Diseases 0.010 < 0.001 1 2019 2019