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: rs13329952
rs13329952
1.000 0.080 16 20355185 intron variant T/C snv 0.24
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2016 2016
dbSNP: rs183962941
rs183962941
0.925 0.080 16 20343125 intron variant G/A snv 1.1E-02
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs201761378
rs201761378
1.000 0.080 16 20341292 missense variant C/T snv 9.7E-04 2.4E-04
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs12917707
rs12917707
0.827 0.200 16 20356368 upstream gene variant G/T snv 0.14
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.720 1.000 5 2009 2015
dbSNP: rs13333226
rs13333226
0.827 0.200 16 20354332 intron variant A/G snv 0.23
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2016 2016
dbSNP: rs4293393
rs4293393
0.827 0.200 16 20353266 intron variant A/G snv 0.20
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 1 2010 2010