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: 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
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: rs17744945
rs17744945 		1.000 0.040 8 117016555 intron variant T/G snv 0.12
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs17745016
rs17745016 		1.000 0.040 8 117026617 intron variant A/G snv 0.11
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs17812503
rs17812503 		1.000 0.040 8 117009432 intron variant C/A;G snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
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: 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: 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: rs6987643
rs6987643 		1.000 0.040 8 117016307 intron variant T/A;C snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
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: 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: 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: 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: 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