rs28939081, ATP6V0A4

N. diseases: 2
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, AUTOSOMAL RECESSIVE
CUI: C1864498
Disease: RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL RECESSIVE
13 0.925 0.280 7 138709633 missense variant C/T snv 4.0E-05 7.0E-06 0.700 1.000 2 2000 2002
Renal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss
CUI: C1864499
Disease: Renal Tubular Acidosis, Distal, Autosomal Recessive, with Late-Onset Sensorineural Hearing Loss
2 0.925 0.280 7 138709633 missense variant C/T snv 4.0E-05 7.0E-06 0.700 0