rs28934601, 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 15644611 missense variant A/G snv 4.4E-05 5.6E-05 0.700 1.000 9 1999 2017