PCNA, proliferating cell nuclear antigen, 5111

N. diseases: 581; N. variants: 6
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: rs13038869
rs13038869
20 5128613 non coding transcript exon variant T/C snv 0.19
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019
dbSNP: rs369958038
rs369958038
1.000 20 5115472 missense variant C/A snv 8.0E-06 7.0E-06
ATAXIA-TELANGIECTASIA-LIKE DISORDER 2
0.800 1.000 1 2014 2014
dbSNP: rs1050525
rs1050525
0.925 0.080 20 5119682 missense variant G/A;T snv 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1050525
rs1050525
0.925 0.080 20 5119682 missense variant G/A;T snv 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs771828986
rs771828986
1.000 0.080 20 5118856 missense variant T/C snv 8.0E-06
CUI: C0032131
Disease: Plasmacytoma
Plasmacytoma
Neoplasms; Immune System Diseases 0.010 1.000 1 1998 1998
dbSNP: rs141842220
rs141842220
1.000 0.120 20 5119600 missense variant C/T snv
CUI: C0013336
Disease: Dwarfism
Dwarfism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs25406
rs25406
0.807 0.120 20 5118990 intron variant G/A snv 0.41
CUI: C0025286
Disease: Meningioma
Meningioma
Neoplasms; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs25406
rs25406
0.807 0.120 20 5118990 intron variant G/A snv 0.41
CUI: C0278877
Disease: Adult Meningioma
Adult Meningioma
Neoplasms; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs25406
rs25406
0.807 0.120 20 5118990 intron variant G/A snv 0.41
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs25406
rs25406
0.807 0.120 20 5118990 intron variant G/A snv 0.41
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs25406
rs25406
0.807 0.120 20 5118990 intron variant G/A snv 0.41
Meningioma, benign, no ICD-O subtype
Neoplasms; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs25406
rs25406
0.807 0.120 20 5118990 intron variant G/A snv 0.41
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs25406
rs25406
0.807 0.120 20 5118990 intron variant G/A snv 0.41
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs25406
rs25406
0.807 0.120 20 5118990 intron variant G/A snv 0.41
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013