rs80338686, BTD

N. diseases: 3
Source: CLINVAR ×
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.
Biotinidase Deficiency
CUI: C0220754
Disease: Biotinidase Deficiency
186 0.925 0.080 3 15645468 missense variant C/A;T snv 3.3E-05; 7.5E-05 0.800 1.000 6 1997 2017
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
611 0.925 0.080 3 15645468 missense variant C/A;T snv 3.3E-05; 7.5E-05 0.700 1.000 10 1998 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.925 0.080 3 15645468 missense variant C/A;T snv 3.3E-05; 7.5E-05 0.700 1.000 10 1998 2017