N4BP1, NEDD4 binding protein 1, 9683

N. diseases: 12; 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: rs6500395
rs6500395
1.000 0.120 16 48587491 intron variant T/C snv 0.41
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.800 1.000 1 2013 2013
dbSNP: rs569868609
rs569868609
16 48619072 intron variant AAAA/-;A;AA;AAA;AAAAA;AAAAAA;AAAAAAA;AAAAAAAAAAAAA delins
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.700 1.000 1 2016 2016
dbSNP: rs569868609
rs569868609
16 48619072 intron variant AAAA/-;A;AA;AAA;AAAAA;AAAAAA;AAAAAAA;AAAAAAAAAAAAA delins
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test)
0.700 1.000 1 2016 2016
dbSNP: rs752992795
rs752992795
16 48548859 intron variant T/A snv 4.1E-04
CUI: C0017979
Disease: Glycosuria
Glycosuria
Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2019 2019