rs121908858, SLC4A4

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, Proximal, With Ocular Abnormalities And Mental Retardation
CUI: C1970309
Disease: Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
5 0.925 0.360 4 71339333 stop gained C/T snv 0.700 0
Renal Tubular Acidosis, Type II
CUI: C0268435
Disease: Renal Tubular Acidosis, Type II
4 0.925 0.360 4 71339333 stop gained C/T snv 0.020 1.000 2 2005 2008