SLC30A8, solute carrier family 30 member 8, 169026

N. diseases: 63; N. variants: 23
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: rs13266634
rs13266634 		0.724 0.480 8 117172544 missense variant C/A;T snv 0.29
CUI: C2931689
Disease: Dystrophia myotonica 2
Dystrophia myotonica 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs13266634
rs13266634 		0.724 0.480 8 117172544 missense variant C/A;T snv 0.29
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs13266634
rs13266634 		0.724 0.480 8 117172544 missense variant C/A;T snv 0.29
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		Digestive System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs13266634
rs13266634 		0.724 0.480 8 117172544 missense variant C/A;T snv 0.29
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs13266634
rs13266634 		0.724 0.480 8 117172544 missense variant C/A;T snv 0.29
CUI: C0015695
Disease: Fatty Liver
Fatty Liver 		Digestive System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs13266634
rs13266634 		0.724 0.480 8 117172544 missense variant C/A;T snv 0.29
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs13266634
rs13266634 		0.724 0.480 8 117172544 missense variant C/A;T snv 0.29
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs13266634
rs13266634 		0.724 0.480 8 117172544 missense variant C/A;T snv 0.29
CUI: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance 		Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs13266634
rs13266634 		0.724 0.480 8 117172544 missense variant C/A;T snv 0.29
CUI: C0020456
Disease: Hyperglycemia
Hyperglycemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs13266634
rs13266634 		0.724 0.480 8 117172544 missense variant C/A;T snv 0.29
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs13266634
rs13266634 		0.724 0.480 8 117172544 missense variant C/A;T snv 0.29
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.010 1.000 1 2014 2014
dbSNP: rs16889462
rs16889462 		1.000 0.080 8 117172545 missense variant G/A;C;T snv 1.5E-02; 2.0E-05; 4.0E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2466293
rs2466293 		1.000 0.080 8 117173699 3 prime UTR variant A/G snv 0.33
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2466293
rs2466293 		1.000 0.080 8 117173699 3 prime UTR variant A/G snv 0.33
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs3802177
rs3802177 		1.000 0.080 8 117172786 3 prime UTR variant G/A snv 0.24
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs4876369
rs4876369 		0.882 0.120 8 117151265 intron variant A/G snv 0.10
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs4876369
rs4876369 		0.882 0.120 8 117151265 intron variant A/G snv 0.10
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs4876369
rs4876369 		0.882 0.120 8 117151265 intron variant A/G snv 0.10
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs4876369
rs4876369 		0.882 0.120 8 117151265 intron variant A/G snv 0.10
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs748727258
rs748727258 		1.000 0.080 8 117157796 missense variant C/G;T snv 4.0E-06; 2.4E-05
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs770784511
rs770784511 		1.000 0.080 8 117163508 synonymous variant C/T snv 4.0E-06
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs7817754
rs7817754 		1.000 0.080 8 117142742 intron variant A/G snv 0.22
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs200185429
rs200185429 		1.000 0.080 8 117153084 stop gained C/T snv 2.4E-04 9.8E-05
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2014 2019
dbSNP: rs13266634
rs13266634 		0.724 0.480 8 117172544 missense variant C/A;T snv 0.29
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.030 1.000 3 2014 2017
dbSNP: rs13266634
rs13266634 		0.724 0.480 8 117172544 missense variant C/A;T snv 0.29
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.060 1.000 6 2009 2018