BTD, biotinidase, 686

N. diseases: 90; N. variants: 192
Disease: Biotinidase Deficiency ×
Source: ALL
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: rs398123139
rs398123139 		1.000 0.080 3 15644482 missense variant G/A snv 2.4E-05 7.0E-05
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 2014 2016
dbSNP: rs372844636
rs372844636 		1.000 0.080 3 15644487 missense variant C/T snv 2.0E-05 1.4E-05
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 1999 2015
dbSNP: rs397507174
rs397507174 		1.000 0.080 3 15644485 missense variant A/G snv
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 1997 2015
dbSNP: rs397507175
rs397507175 		1.000 0.080 3 15644590 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2005 2017
dbSNP: rs397514360
rs397514360 		1.000 0.080 3 15642057 splice region variant G/A snv 4.0E-06
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 1997 2002
dbSNP: rs397514404
rs397514404 		1.000 0.080 3 15645095 inframe deletion ATCTCCACGTCT/- delins 8.0E-06 7.0E-06
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 1997 2016
dbSNP: rs397514425
rs397514425 		1.000 0.080 3 15645346 frameshift variant -/T delins
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2007 2018
dbSNP: rs587783005
rs587783005 		1.000 0.080 3 15644557 missense variant C/G;T snv 4.0E-06; 3.2E-05
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2014 2017
dbSNP: rs672601248
rs672601248 		1.000 0.080 3 15645083 frameshift variant GGGAAAGGAAGGCTA/NNNNNNNNNNN;TTCCAATGGCC delins
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 1996 2001
dbSNP: rs1205964567
rs1205964567 		1.000 0.080 3 15635571 frameshift variant -/ATCC delins
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2007 2012
dbSNP: rs181396238
rs181396238 		1.000 0.080 3 15645288 missense variant G/A;C snv 8.0E-06; 1.6E-05
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2009 2016
dbSNP: rs397507170
rs397507170 		1.000 0.080 3 15635563 missense variant G/A;T snv 1.2E-05
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 1999 2001
dbSNP: rs397507171
rs397507171 		1.000 0.080 3 15635624 missense variant C/A;T snv 4.0E-06; 8.0E-06
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2003 2016
dbSNP: rs397507176
rs397507176 		1.000 0.080 3 15644824 missense variant A/G snv 2.1E-03 3.0E-04
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2012 2012
dbSNP: rs397514345
rs397514345 		1.000 0.080 3 15645217 missense variant A/C;G snv 2.6E-04
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2005 2016
dbSNP: rs397514352
rs397514352 		1.000 0.080 3 15641932 missense variant G/A;C snv 4.0E-06
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 1997 2003
dbSNP: rs397514390
rs397514390 		1.000 0.080 3 15644692 stop gained T/A;G snv
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2001 2016
dbSNP: rs397514398
rs397514398 		1.000 0.080 3 15644908 frameshift variant C/- del
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2003 2010
dbSNP: rs397514402
rs397514402 		1.000 0.080 3 15645190 missense variant G/A;T snv 7.0E-06
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 1997 2016
dbSNP: rs397514412
rs397514412 		1.000 0.080 3 15645123 missense variant T/C snv 7.0E-06
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 1997 2017
dbSNP: rs80338684
rs80338684 		1.000 0.080 3 15635477 frameshift variant GCGGCTG/TCC delins
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 1995 1997
dbSNP: rs1004027979
rs1004027979 		1.000 0.080 3 15644951 frameshift variant -/TC delins 2.8E-05
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1024847163
rs1024847163 		1.000 0.080 3 15641919 missense variant T/G snv 3.5E-05
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2016 2016
dbSNP: rs104893686
rs104893686 		1.000 0.080 3 15645063 missense variant T/G snv 1.6E-05
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 1999 1999
dbSNP: rs1050035768
rs1050035768 		1.000 0.080 3 15645484 missense variant A/T snv 4.2E-06 2.1E-05
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 1 2016 2016