UPP2, uridine phosphorylase 2, 151531

N. diseases: 16; 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: rs10183640
rs10183640
2 157923692 intron variant G/A snv 0.31
CUI: C0085298
Disease: Sudden Cardiac Death
Sudden Cardiac Death
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs10183640
rs10183640
2 157923692 intron variant G/A snv 0.31
CUI: C1720824
Disease: Sudden Cardiac Arrest
Sudden Cardiac Arrest
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs35806662
rs35806662
1.000 0.040 2 157933913 intron variant A/G snv 0.25
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
Mental Disorders 0.700 1.000 1 2015 2015
dbSNP: rs35806662
rs35806662
1.000 0.040 2 157933913 intron variant A/G snv 0.25
CUI: C3158111
Disease: response to SSRI
response to SSRI
0.700 1.000 1 2015 2015
dbSNP: rs11368509
rs11368509
1.000 0.040 2 158102039 frameshift variant -/A ins 8.0E-05; 6.3E-02 0.10
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
Mental Disorders 0.010 1.000 1 2014 2014