UMOD, uromodulin, 7369

N. diseases: 164; N. variants: 35
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: rs183962941
rs183962941
0.925 0.080 16 20343125 intron variant G/A snv 1.1E-02
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs12917707
rs12917707
0.827 0.200 16 20356368 upstream gene variant G/T snv 0.14
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2012 2014
dbSNP: rs13333226
rs13333226
0.827 0.200 16 20354332 intron variant A/G snv 0.23
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016