NUDT1, nudix hydrolase 1, 4521

N. diseases: 73; N. variants: 3
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: rs1799832
rs1799832
1.000 0.080 7 2250887 synonymous variant C/T snv 0.18 0.16
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
Digestive System Diseases; Neoplasms 0.020 1.000 2 2011 2018
dbSNP: rs4866
rs4866
0.827 0.240 7 2249951 missense variant G/A snv 2.2E-02 1.8E-02
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.010 < 0.001 1 2000 2000
dbSNP: rs4866
rs4866
0.827 0.240 7 2249951 missense variant G/A snv 2.2E-02 1.8E-02
Diabetes Mellitus, Insulin-Dependent
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs4866
rs4866
0.827 0.240 7 2249951 missense variant G/A snv 2.2E-02 1.8E-02
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs4866
rs4866
0.827 0.240 7 2249951 missense variant G/A snv 2.2E-02 1.8E-02
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease
Nervous System Diseases 0.010 < 0.001 1 2000 2000
dbSNP: rs4866
rs4866
0.827 0.240 7 2249951 missense variant G/A snv 2.2E-02 1.8E-02
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2006 2006
dbSNP: rs755509970
rs755509970
1.000 0.040 7 2244708 missense variant T/C snv 2.1E-05 1.4E-05
CUI: C4511452
Disease: Sporadic Parkinson disease
Sporadic Parkinson disease
Nervous System Diseases 0.010 1.000 1 2008 2008