NUP88, nucleoporin 88, 4927

N. diseases: 58; N. variants: 5
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: rs72634030
rs72634030
1.000 0.120 17 5369285 intron variant C/A snv 8.8E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.800 1.000 2 2014 2019
dbSNP: rs1000940
rs1000940
17 5379957 intron variant A/G snv 0.31
CUI: C1305855
Disease: Body mass index
Body mass index
0.700 1.000 3 2015 2019
dbSNP: rs3026101
rs3026101
17 5377145 synonymous variant T/C snv 0.36 0.31
CUI: C1305855
Disease: Body mass index
Body mass index
0.700 1.000 3 2017 2019
dbSNP: rs1065483
rs1065483
17 5381475 synonymous variant G/A snv 0.53 0.51
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement
0.700 1.000 1 2012 2012
dbSNP: rs10792
rs10792
17 5384859 3 prime UTR variant A/T snv 0.29
CUI: C1305855
Disease: Body mass index
Body mass index
0.700 1.000 1 2019 2019