rs200248046, SLC3A1

N. diseases: 3
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.
Ataxia
CUI: C0004134
Disease: Ataxia
68 1.000 0.120 2 44299998 missense variant G/A;C snv 4.0E-06; 8.0E-06 0.010 1.000 1 2010 2010
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 1.000 0.120 2 44299998 missense variant G/A;C snv 4.0E-06; 8.0E-06 0.010 1.000 1 2010 2010
Cystinuria type 1
CUI: C0268643
Disease: Cystinuria type 1
7 1.000 0.120 2 44299998 missense variant G/A;C snv 4.0E-06; 8.0E-06 0.010 1.000 1 2010 2010