rs104893687, 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 15635614 missense variant C/T snv 4.0E-06 7.0E-06 0.710 1.000 3 2000 2016