rs104893688, 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 15645451 missense variant C/T snv 6.9E-05 9.8E-05 0.800 1.000 8 1997 2012