UBE2I, ubiquitin conjugating enzyme E2 I, 7329

N. diseases: 131; N. variants: 7
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: rs11248866
rs11248866
16 1315340 non coding transcript exon variant G/A snv 0.52
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 1 2019 2019
dbSNP: rs2281226
rs2281226
16 1314766 non coding transcript exon variant A/C snv 0.54
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 1 2019 2019
dbSNP: rs2369842
rs2369842
16 1316424 non coding transcript exon variant G/T snv 0.38
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.700 1.000 1 2019 2019
dbSNP: rs11553473
rs11553473
0.882 0.080 16 1314299 missense variant G/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2010 2014
dbSNP: rs11553473
rs11553473
0.882 0.080 16 1314299 missense variant G/A snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2010 2014
dbSNP: rs11553473
rs11553473
0.882 0.080 16 1314299 missense variant G/A snv
CUI: C1527349
Disease: Ductal Breast Carcinoma
Ductal Breast Carcinoma
Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs761059
rs761059
1.000 0.080 16 1324523 intron variant A/C;G snv
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
Nervous System Diseases; Mental Disorders 0.010 1.000 1 2009 2009
dbSNP: rs8052688
rs8052688
1.000 0.040 16 1322182 intron variant G/A;C snv
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder
Mental Disorders 0.010 1.000 1 2009 2009
dbSNP: rs8063
rs8063
1.000 0.040 16 1324817 3 prime UTR variant A/C;G snv 4.0E-06; 4.0E-06; 0.71
CUI: C1270972
Disease: Mild cognitive disorder
Mild cognitive disorder
Mental Disorders 0.010 1.000 1 2009 2009