Disease: Infantile hypophosphatasia ×
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: rs121918010
rs121918010 		0.827 0.200 1 21573781 missense variant T/C snv 7.2E-05 4.2E-05
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 10 1994 2014
dbSNP: rs121918016
rs121918016 		1.000 0.080 1 21577439 missense variant G/A snv
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 4 1994 2001
dbSNP: rs121918017
rs121918017 		1.000 0.080 1 21573694 missense variant G/A;C snv 2.0E-05
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 4 1994 2001
dbSNP: rs771540767
rs771540767 		0.882 0.080 1 21575879 missense variant G/A snv 4.0E-06
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 8 1998 2013
dbSNP: rs1054159992
rs1054159992 		0.925 0.080 1 21577448 missense variant G/A;T snv 7.0E-06
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 5 1994 2002
dbSNP: rs121918011
rs121918011 		0.851 0.080 1 21563219 missense variant G/A;C snv 1.4E-04
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 11 1999 2018
dbSNP: rs121918009
rs121918009 		0.851 0.080 1 21575736 missense variant G/A snv
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 9 1993 2014
dbSNP: rs763159520
rs763159520 		0.925 0.080 1 21564118 missense variant C/T snv 1.2E-05 7.0E-06
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 9 1998 2015
dbSNP: rs766076920
rs766076920 		0.882 0.080 1 21568122 missense variant C/T snv 8.0E-06 2.1E-05
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 9 1998 2013
dbSNP: rs199665722
rs199665722 		0.925 0.080 1 21568123 missense variant G/A snv 1.6E-05 7.0E-06
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 7 2002 2014
dbSNP: rs786204530
rs786204530 		0.851 0.160 1 21563212 missense variant AC/CA mnv
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 7 2002 2012
dbSNP: rs121918001
rs121918001 		0.882 0.080 1 21561126 missense variant C/A;T snv
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 6 1992 2017
dbSNP: rs121918008
rs121918008 		0.851 0.080 1 21575868 missense variant A/T snv 4.0E-06 7.0E-06
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 6 1992 2012
dbSNP: rs121918014
rs121918014 		0.827 0.120 1 21576582 missense variant A/G snv 2.0E-05 5.6E-05
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 6 2001 2017
dbSNP: rs121918000
rs121918000 		0.925 0.080 1 21564103 missense variant G/A snv 1.2E-05
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 5 1988 2012
dbSNP: rs121918007
rs121918007 		0.851 0.080 1 21564139 missense variant G/A;C snv 2.4E-03; 4.0E-06
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 5 1999 2009
dbSNP: rs121918013
rs121918013 		0.827 0.120 1 21563158 missense variant G/A snv
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 5 2000 2011
dbSNP: rs149889416
rs149889416 		0.882 0.160 1 21577436 missense variant G/A snv 4.5E-05 3.5E-05
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 5 2004 2016
dbSNP: rs387906525
rs387906525 		0.925 0.080 1 21577632 frameshift variant T/- del 8.7E-06; 1.3E-05
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 5 1998 2010
dbSNP: rs1413274209
rs1413274209 		0.882 0.080 1 21577544 missense variant G/A snv 8.3E-06 2.1E-05
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 1998 2016
dbSNP: rs199590449
rs199590449 		0.925 0.080 1 21564110 missense variant C/T snv 4.0E-05 7.0E-06
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 2001 2012
dbSNP: rs371243939
rs371243939 		0.882 0.080 1 21575906 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 1999 2009
dbSNP: rs121918019
rs121918019 		0.882 0.080 1 21564094 missense variant G/A;C snv 9.2E-05
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2000 2009
dbSNP: rs781272386
rs781272386 		0.882 0.080 1 21570327 missense variant G/A;C;T snv 8.0E-06; 4.0E-06; 8.0E-06
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 2005 2017
dbSNP: rs786204473
rs786204473 		0.925 0.080 1 21573673 missense variant G/A snv
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 1998 2002