rs188709583, UMOD

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Creatinine measurement, serum (procedure)
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
243 1.000 16 20337383 missense variant C/A;T snv 4.0E-06; 1.3E-04 0.700 1.000 1 2018 2018
Glomerular Filtration Rate
CUI: C0017654
Disease: Glomerular Filtration Rate
1033 1.000 16 20337383 missense variant C/A;T snv 4.0E-06; 1.3E-04 0.700 1.000 1 2018 2018
Autosomal dominant tubulointerstitial kidney disease
CUI: C4511620
Disease: Autosomal dominant tubulointerstitial kidney disease
3 1.000 16 20337383 missense variant C/A;T snv 4.0E-06; 1.3E-04 0.010 1.000 1 2019 2019