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: rs12785878
rs12785878
0.677 0.520 11 71456403 intron variant G/A;T snv
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency
Nutritional and Metabolic Diseases 0.810 1.000 2 2010 2015
dbSNP: rs3829251
rs3829251
0.851 0.120 11 71483513 intron variant G/A snv 0.21
CUI: C0919758
Disease: Vitamin D measurement
Vitamin D measurement
0.800 1.000 1 2010 2010
dbSNP: rs3829251
rs3829251
0.851 0.120 11 71483513 intron variant G/A snv 0.21
CUI: C0523979
Disease: Vitamin D3 measurement
Vitamin D3 measurement
0.800 1.000 1 2010 2010
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: rs12785878
rs12785878
0.677 0.520 11 71456403 intron variant G/A;T snv
CUI: C0919758
Disease: Vitamin D measurement
Vitamin D measurement
0.700 1.000 1 2018 2018
dbSNP: rs12785878
rs12785878
0.677 0.520 11 71456403 intron variant G/A;T snv
CUI: C0523979
Disease: Vitamin D3 measurement
Vitamin D3 measurement
0.700 1.000 1 2018 2018
dbSNP: rs12800438
rs12800438
1.000 0.080 11 71459957 non coding transcript exon variant G/A;T snv
CUI: C0919758
Disease: Vitamin D measurement
Vitamin D measurement
0.700 1.000 1 2018 2018
dbSNP: rs12800438
rs12800438
1.000 0.080 11 71459957 non coding transcript exon variant G/A;T snv
CUI: C0523979
Disease: Vitamin D3 measurement
Vitamin D3 measurement
0.700 1.000 1 2018 2018
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: 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: rs4944062
rs4944062
11 71476248 3 prime UTR variant G/A;T snv
CUI: C0523979
Disease: Vitamin D3 measurement
Vitamin D3 measurement
0.700 1.000 1 2018 2018
dbSNP: rs4944062
rs4944062
11 71476248 3 prime UTR variant G/A;T snv
CUI: C0919758
Disease: Vitamin D measurement
Vitamin D measurement
0.700 1.000 1 2018 2018
dbSNP: rs7938885
rs7938885
11 71458997 non coding transcript exon variant T/C snv 0.59
CUI: C0523979
Disease: Vitamin D3 measurement
Vitamin D3 measurement
0.700 1.000 1 2018 2018
dbSNP: rs7938885
rs7938885
11 71458997 non coding transcript exon variant T/C snv 0.59
CUI: C0919758
Disease: Vitamin D measurement
Vitamin D measurement
0.700 1.000 1 2018 2018
dbSNP: rs12785878
rs12785878
0.677 0.520 11 71456403 intron variant G/A;T snv
CUI: C0019196
Disease: Hepatitis C
Hepatitis C
Digestive System Diseases; Infections 0.020 1.000 2 2013 2017
dbSNP: rs12785878
rs12785878
0.677 0.520 11 71456403 intron variant G/A;T snv
Diabetes Mellitus, Insulin-Dependent
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.020 1.000 2 2012 2013
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: rs12785878
rs12785878
0.677 0.520 11 71456403 intron variant G/A;T snv
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
Immune System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs12785878
rs12785878
0.677 0.520 11 71456403 intron variant G/A;T snv
CUI: C0011847
Disease: Diabetes
Diabetes
Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs12785878
rs12785878
0.677 0.520 11 71456403 intron variant G/A;T snv
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs12785878
rs12785878
0.677 0.520 11 71456403 intron variant G/A;T snv
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
Cardiovascular Diseases 0.010 1.000 1 2013 2013