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: rs4293393
rs4293393
0.827 0.200 16 20353266 intron variant A/G snv 0.20
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs13333226
rs13333226
0.827 0.200 16 20354332 intron variant A/G snv 0.23
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs12917707
rs12917707
0.827 0.200 16 20356368 upstream gene variant G/T snv 0.14
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 < 0.001 1 2015 2015