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.
Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness
CUI: C0403554
Disease: Renal Tubular Acidosis, Distal, with Progressive Nerve Deafness
9 0.851 0.280 2 70958113 missense variant T/C snv 4.0E-06 0.700 1.000 3 1999 2003
Nephrocalcinosis
CUI: C0027709
Disease: Nephrocalcinosis
20 0.851 0.280 2 70958113 missense variant T/C snv 4.0E-06 0.700 1.000 1 2018 2018
Nephrolithiasis
CUI: C0392525
Disease: Nephrolithiasis
99 0.851 0.280 2 70958113 missense variant T/C snv 4.0E-06 0.700 1.000 1 2018 2018
RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS
CUI: C4016429
Disease: RENAL TUBULAR ACIDOSIS, DISTAL, WITH PROGRESSIVE DEAFNESS
3 0.851 0.280 2 70958113 missense variant T/C snv 4.0E-06 0.700 0