Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121912751
rs121912751
SLC4A1
0.882 0.200 17 44251241 missense variant G/T snv 7.2E-05 2.1E-05
CUI: C1704380
Disease: Distal Renal Tubular Acidosis
Distal Renal Tubular Acidosis 		0.740 0.750 0 2006 2010
dbSNP: rs878853002
rs878853002
SLC4A1
1.000 0.160 17 44255272 missense variant C/T snv
CUI: C1704380
Disease: Distal Renal Tubular Acidosis
Distal Renal Tubular Acidosis 		0.710 1.000 0 2017 2017