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: rs13078881
rs13078881 		1.000 0.080 3 15645186 missense variant G/C;T snv 3.2E-02
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.860 0.926 27 1997 2019
dbSNP: rs80338685
rs80338685 		1.000 0.080 3 15645224 missense variant A/C snv 4.1E-04 4.5E-04
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 22 1997 2017
dbSNP: rs104893688
rs104893688 		1.000 0.080 3 15645451 missense variant C/T snv 6.9E-05 9.8E-05
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 12 1997 2012
dbSNP: rs13073139
rs13073139 		1.000 0.080 3 15644367 missense variant G/A snv 3.3E-04 3.8E-04
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 11 1997 2017
dbSNP: rs80338686
rs80338686 		0.925 0.080 3 15645468 missense variant C/A;T snv 3.3E-05; 7.5E-05
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 10 1997 2017
dbSNP: rs397514355
rs397514355 		1.000 0.080 3 15641980 missense variant T/G snv
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 5 1997 2012
dbSNP: rs397514419
rs397514419 		1.000 0.080 3 15645208 missense variant G/A;T snv 8.0E-06
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 5 1997 2012
dbSNP: rs397514380
rs397514380 		1.000 0.080 3 15644538 missense variant G/T snv 4.0E-06
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 3 1997 1998
dbSNP: rs146015592
rs146015592 		1.000 0.080 3 15644326 missense variant G/A snv 1.1E-04 1.5E-04
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 11 1997 2018
dbSNP: rs104893687
rs104893687 		1.000 0.080 3 15635614 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 4 2000 2016
dbSNP: rs397514416
rs397514416 		1.000 0.080 3 15645170 stop gained T/A snv
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 3 2001 2019
dbSNP: rs138818907
rs138818907 		1.000 0.080 3 15645345 missense variant C/T snv 2.4E-05 1.1E-04
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 11 1999 2016
dbSNP: rs28934601
rs28934601 		1.000 0.080 3 15644611 missense variant A/G snv 4.4E-05 5.6E-05
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 9 1999 2017
dbSNP: rs397514369
rs397514369 		1.000 0.080 3 15644413 missense variant G/A snv 2.0E-05
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 9 2000 2018
dbSNP: rs397514395
rs397514395 		1.000 0.080 3 15644789 frameshift variant T/- del 4.2E-05
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 8 1997 2017
dbSNP: rs397514375
rs397514375 		1.000 0.080 3 15644451 missense variant G/A snv 2.0E-05 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 7 2003 2017
dbSNP: rs119103232
rs119103232 		1.000 0.080 3 15635479 missense variant G/A snv 2.8E-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 6 1997 2017
dbSNP: rs1553653680
rs1553653680 		1.000 0.080 3 15644443 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 6 1997 2014
dbSNP: rs190386869
rs190386869 		1.000 0.080 3 15644499 missense variant C/G;T snv 8.0E-06; 2.0E-05
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 6 1997 2017
dbSNP: rs397514348
rs397514348 		1.000 0.080 3 15635657 missense variant A/G;T 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 5 2003 2017
dbSNP: rs397514418
rs397514418 		1.000 0.080 3 15645195 missense variant C/T 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 5 2008 2015
dbSNP: rs146136265
rs146136265 		1.000 0.080 3 15645485 missense variant C/A;G snv 5.9E-05; 4.2E-06
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 2012 2016
dbSNP: rs375712490
rs375712490 		1.000 0.080 3 15641939 missense variant G/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 4 2005 2017
dbSNP: rs397514357
rs397514357 		1.000 0.080 3 15642022 missense variant C/A snv
CUI: C0220754
Disease: Biotinidase Deficiency
Biotinidase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 2009 2016
dbSNP: rs397514367
rs397514367 		1.000 0.080 3 15644384 missense variant G/T snv 9.5E-05 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 4 1999 2016