rs121912751, SLC4A1

N. diseases: 4
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.
Distal Renal Tubular Acidosis
CUI: C1704380
Disease: Distal Renal Tubular Acidosis
18 0.882 0.200 17 44251241 missense variant G/T snv 7.2E-05 2.1E-05 0.740 0.750 4 2006 2010
RENAL TUBULAR ACIDOSIS, AUTOSOMAL DOMINANT
1 0.882 0.200 17 44251241 missense variant G/T snv 7.2E-05 2.1E-05 0.700 0
Anemia, Hemolytic
CUI: C0002878
Disease: Anemia, Hemolytic
31 0.882 0.200 17 44251241 missense variant G/T snv 7.2E-05 2.1E-05 0.010 1.000 1 2012 2012
Hb H disease
CUI: C3841459
Disease: Hb H disease
2 0.882 0.200 17 44251241 missense variant G/T snv 7.2E-05 2.1E-05 0.010 1.000 1 2008 2008