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: rs1155178
rs1155178 		1.000 0.040 8 117026998 intron variant G/A snv 0.65
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs11558471
rs11558471 		1.000 0.080 8 117173494 3 prime UTR variant A/G snv 0.25
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.800 1.000 6 2010 2019
dbSNP: rs11558471
rs11558471 		1.000 0.080 8 117173494 3 prime UTR variant A/G snv 0.25
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.720 1.000 3 2010 2012
dbSNP: rs11558471
rs11558471 		1.000 0.080 8 117173494 3 prime UTR variant A/G snv 0.25
CUI: C0202098
Disease: Insulin measurement
Insulin measurement 		0.800 1.000 2 2011 2013
dbSNP: rs11558471
rs11558471 		1.000 0.080 8 117173494 3 prime UTR variant A/G snv 0.25
CUI: C1261430
Disease: Fasting blood sugar result
Fasting blood sugar result 		0.700 1.000 1 2012 2012
dbSNP: rs11558471
rs11558471 		1.000 0.080 8 117173494 3 prime UTR variant A/G snv 0.25
CUI: C1305855
Disease: Body mass index
Body mass index 		0.800 1.000 1 2012 2012
dbSNP: rs11781136
rs11781136 		1.000 0.040 8 117016058 intron variant A/G snv 0.12
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs11989343
rs11989343 		1.000 0.040 8 117030818 intron variant G/C snv 6.9E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs13253360
rs13253360 		1.000 0.040 8 117016206 intron variant G/A snv 0.15
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs13266634
rs13266634 		0.724 0.480 8 117172544 missense variant C/A;T snv 0.29
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 1.000 0.973 75 2007 2019
dbSNP: rs13266634
rs13266634 		0.724 0.480 8 117172544 missense variant C/A;T snv 0.29
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.100 1.000 11 2009 2020
dbSNP: rs13266634
rs13266634 		0.724 0.480 8 117172544 missense variant C/A;T snv 0.29
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.100 1.000 11 2009 2020
dbSNP: rs13266634
rs13266634 		0.724 0.480 8 117172544 missense variant C/A;T snv 0.29
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.070 0.714 7 2008 2019
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
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: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement 		0.700 1.000 2 2015 2017
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: C0495706
Disease: elevated blood glucose level
elevated blood glucose level 		0.700 1.000 1 2018 2018
dbSNP: rs13266634
rs13266634 		0.724 0.480 8 117172544 missense variant C/A;T snv 0.29
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
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