NADSYN1, NAD synthetase 1, 55191

N. diseases: 14; N. variants: 11
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: rs4944957
rs4944957 		1.000 0.080 11 71456989 intron variant A/G snv 0.62
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs4944957
rs4944957 		1.000 0.080 11 71456989 intron variant A/G snv 0.62
CUI: C0262586
Disease: Osteopenia/osteoporosis
Osteopenia/osteoporosis 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs7944926
rs7944926 		0.807 0.200 11 71454579 intron variant A/G snv 0.54
CUI: C0008149
Disease: Chlamydia Infections
Chlamydia Infections 		Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs7944926
rs7944926 		0.807 0.200 11 71454579 intron variant A/G snv 0.54
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.010 1.000 1 2013 2013
dbSNP: rs7944926
rs7944926 		0.807 0.200 11 71454579 intron variant A/G snv 0.54
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs7944926
rs7944926 		0.807 0.200 11 71454579 intron variant A/G snv 0.54
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs7944926
rs7944926 		0.807 0.200 11 71454579 intron variant A/G snv 0.54
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs7944926
rs7944926 		0.807 0.200 11 71454579 intron variant A/G snv 0.54
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs7944926
rs7944926 		0.807 0.200 11 71454579 intron variant A/G snv 0.54
CUI: C0524910
Disease: Hepatitis C, Chronic
Hepatitis C, Chronic 		Digestive System Diseases; Infections 0.010 1.000 1 2013 2013
dbSNP: rs4945008
rs4945008 		1.000 0.080 11 71510202 intron variant A/G;T snv
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs4945008
rs4945008 		1.000 0.080 11 71510202 intron variant A/G;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs3794060
rs3794060 		0.925 0.160 11 71476633 3 prime UTR variant C/T snv 0.53
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs3794060
rs3794060 		0.925 0.160 11 71476633 3 prime UTR variant C/T snv 0.53
CUI: C0262586
Disease: Osteopenia/osteoporosis
Osteopenia/osteoporosis 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2018 2018
dbSNP: rs4423214
rs4423214 		11 71462208 intron variant C/T snv 0.58
CUI: C0523979
Disease: Vitamin D3 measurement
Vitamin D3 measurement 		0.700 1.000 1 2017 2017
dbSNP: rs4423214
rs4423214 		11 71462208 intron variant C/T snv 0.58
CUI: C0919758
Disease: Vitamin D measurement
Vitamin D measurement 		0.700 1.000 1 2017 2017
dbSNP: rs11234027
rs11234027 		0.882 0.080 11 71523061 intron variant G/A snv 0.24
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs11234027
rs11234027 		0.882 0.080 11 71523061 intron variant G/A snv 0.24
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs11234027
rs11234027 		0.882 0.080 11 71523061 intron variant G/A snv 0.24
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs11234027
rs11234027 		0.882 0.080 11 71523061 intron variant G/A snv 0.24
CUI: C0523979
Disease: Vitamin D3 measurement
Vitamin D3 measurement 		0.700 1.000 1 2010 2010
dbSNP: rs11234027
rs11234027 		0.882 0.080 11 71523061 intron variant G/A snv 0.24
CUI: C0919758
Disease: Vitamin D measurement
Vitamin D measurement 		0.700 1.000 1 2010 2010
dbSNP: rs3829251
rs3829251 		0.851 0.120 11 71483513 intron variant G/A snv 0.21
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		Digestive System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3829251
rs3829251 		0.851 0.120 11 71483513 intron variant G/A snv 0.21
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3829251
rs3829251 		0.851 0.120 11 71483513 intron variant G/A snv 0.21
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3829251
rs3829251 		0.851 0.120 11 71483513 intron variant G/A snv 0.21
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs3829251
rs3829251 		0.851 0.120 11 71483513 intron variant G/A snv 0.21
CUI: C0008149
Disease: Chlamydia Infections
Chlamydia Infections 		Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases 0.010 1.000 1 2016 2016