BTD, biotinidase, 686

N. diseases: 3; N. variants: 186
Disease: Dysmorphic features ×
Source: CLINVAR ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80338686
rs80338686 		0.925 0.080 3 15645468 missense variant C/A;T snv 3.3E-05; 7.5E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 10 1998 2017