NUP205, nucleoporin 205, 23165

N. diseases: 20; 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: rs4294134
rs4294134
0.925 0.080 7 135608380 intron variant A/G snv 0.76
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans
Musculoskeletal Diseases 0.800 1.000 1 2011 2011
dbSNP: rs869312984
rs869312984
1.000 7 135648501 missense variant T/C snv 8.3E-06
CUI: C4225165
Disease: NEPHROTIC SYNDROME, TYPE 13
NEPHROTIC SYNDROME, TYPE 13
0.800 1.000 1 2016 2016
dbSNP: rs12530805
rs12530805
7 135594043 intron variant C/T snv 0.18
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
0.700 1.000 1 2019 2019
dbSNP: rs12530845
rs12530845
7 135645230 intron variant T/C snv 0.21
Finding of Mean Corpuscular Hemoglobin
0.700 1.000 1 2012 2012
dbSNP: rs12530845
rs12530845
7 135645230 intron variant T/C snv 0.21
Corpuscular Hemoglobin Concentration Mean
0.700 1.000 1 2012 2012
dbSNP: rs150498874
rs150498874
7 135619608 missense variant C/G;T snv 4.0E-06; 5.8E-04
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism
Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs4294134
rs4294134
0.925 0.080 7 135608380 intron variant A/G snv 0.76
CUI: C1368019
Disease: Paget Disease
Paget Disease
Neoplasms 0.700 1.000 1 2011 2011
dbSNP: rs4728358
rs4728358
7 135565522 intron variant C/T snv 0.66
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 1 2019 2019
dbSNP: rs4732134
rs4732134
7 135616313 intron variant T/A;C snv
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 1 2019 2019