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: rs12917707
rs12917707
0.827 0.200 16 20356368 upstream gene variant G/T snv 0.14
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
0.800 1.000 2 2013 2016
dbSNP: rs13329952
rs13329952
1.000 0.080 16 20355185 intron variant T/C snv 0.24
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
0.700 1.000 2 2016 2019
dbSNP: rs12922822
rs12922822
1.000 0.040 16 20356323 upstream gene variant C/A;T snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
0.700 1.000 1 2019 2019
dbSNP: rs13333226
rs13333226
0.827 0.200 16 20354332 intron variant A/G snv 0.23
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
0.700 1.000 1 2018 2018
dbSNP: rs188709583
rs188709583
1.000 16 20337383 missense variant C/A;T snv 4.0E-06; 1.3E-04
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate
0.700 1.000 1 2018 2018