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.
Idiopathic Nephrotic Syndrome
CUI: C3496337
Disease: Idiopathic Nephrotic Syndrome
72 0.925 0.080 1 179552601 splice donor variant A/T snv 1.4E-05 0.700 1.000 2 2015 2016
NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
CUI: C1868672
Disease: NEPHROTIC SYNDROME, STEROID-RESISTANT, AUTOSOMAL RECESSIVE
53 0.925 0.080 1 179552601 splice donor variant A/T snv 1.4E-05 0.700 1.000 2 2015 2016