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: rs6997279
rs6997279
0.882 0.160 8 116961613 intron variant G/T snv 0.20
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 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: 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: 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: C0495706
Disease: elevated blood glucose level
elevated blood glucose level
0.700 1.000 1 2018 2018
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: 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: rs3802177
rs3802177
1.000 0.080 8 117172786 3 prime UTR variant G/A snv 0.24
CUI: C0428568
Disease: Fasting blood glucose measurement
Fasting blood glucose measurement
0.800 1.000 2 2012 2015
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: rs3802177
rs3802177
1.000 0.080 8 117172786 3 prime UTR variant G/A snv 0.24
CUI: C1261430
Disease: Fasting blood sugar result
Fasting blood sugar result
0.700 1.000 1 2012 2012
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: 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: 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: 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: rs13266634
rs13266634
0.724 0.480 8 117172544 missense variant C/A;T snv 0.29
CUI: C0337438
Disease: Glucose measurement
Glucose measurement
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: C0019196
Disease: Hepatitis C
Hepatitis C
Digestive System Diseases; Infections 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: 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: 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: C0271650
Disease: Impaired glucose tolerance
Impaired glucose tolerance
Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011
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: rs6997279
rs6997279
0.882 0.160 8 116961613 intron variant G/T snv 0.20
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
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: 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: rs13266865
rs13266865
1.000 0.040 8 117026363 intron variant T/C snv 0.11
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.700 1.000 1 2017 2017