rs397514395, BTD

N. diseases: 1
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 1.000 0.080 3 15644789 frameshift variant T/- del 4.2E-05 0.700 1.000 8 1997 2017