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: rs3019885
rs3019885 		0.925 0.120 8 117013406 intron variant T/A;G snv
CUI: C0162871
Disease: Aortic Aneurysm, Abdominal
Aortic Aneurysm, Abdominal 		Cardiovascular Diseases 0.710 1.000 2 2011 2015
dbSNP: rs3019885
rs3019885 		0.925 0.120 8 117013406 intron variant T/A;G snv
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.800 1.000 1 2011 2011
dbSNP: rs13266634
rs13266634 		0.724 0.480 8 117172544 missense variant C/A;T snv 0.29
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		0.700 1.000 1 2009 2009
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: 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: rs3802177
rs3802177 		1.000 0.080 8 117172786 3 prime UTR variant G/A snv 0.24
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2017 2017
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: 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: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.100 1.000 11 2009 2020
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: 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: 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: 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: 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: rs3802177
rs3802177 		1.000 0.080 8 117172786 3 prime UTR variant G/A snv 0.24
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.820 1.000 10 2008 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: 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: rs149935213
rs149935213 		1.000 0.080 8 117158059 intron variant TCT/- delins 2.2E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2019 2019
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: 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: rs531347476
rs531347476 		1.000 0.080 8 117012076 intron variant C/A;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs6997279
rs6997279 		0.882 0.160 8 116961613 intron variant G/T snv 0.20
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.700 1.000 1 2018 2018
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