Disease: 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: C0020630
Disease: Hypophosphatasia
Hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.730 1.000 7 1996 2014
dbSNP: rs121918008
rs121918008 		0.851 0.080 1 21575868 missense variant A/T snv 4.0E-06 7.0E-06
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.720 1.000 5 1992 2015
dbSNP: rs121918007
rs121918007 		0.851 0.080 1 21564139 missense variant G/A;C snv 2.4E-03; 4.0E-06
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 6 1992 2014
dbSNP: rs121918013
rs121918013 		0.827 0.120 1 21563158 missense variant G/A snv
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 3 2009 2015
dbSNP: rs121918009
rs121918009 		0.851 0.080 1 21575736 missense variant G/A snv
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 1 1993 1993
dbSNP: rs121918011
rs121918011 		0.851 0.080 1 21563219 missense variant G/A;C snv 1.4E-04
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 8 1999 2016
dbSNP: rs199669988
rs199669988 		0.882 0.080 1 21564097 missense variant G/A snv 1.3E-04 3.5E-05
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 7 1998 2018
dbSNP: rs149889416
rs149889416 		0.882 0.160 1 21577436 missense variant G/A snv 4.5E-05 3.5E-05
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 4 2004 2016
dbSNP: rs121918002
rs121918002 		0.851 0.080 1 21573683 missense variant A/C snv 3.6E-05 7.0E-05
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 3 1992 2015
dbSNP: rs1558558976
rs1558558976 		1.000 0.080 1 21577544 frameshift variant G/- delins
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2005 2008
dbSNP: rs751404811
rs751404811 		0.925 0.080 1 21575901 frameshift variant C/-;CC delins 2.4E-05
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 1999 2017
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: C0020630
Disease: Hypophosphatasia
Hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2005 2009
dbSNP: rs387906525
rs387906525 		0.925 0.080 1 21577632 frameshift variant T/- del 8.7E-06; 1.3E-05
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs754826836
rs754826836 		1.000 0.080 1 21575916 frameshift variant -/T delins 4.0E-06 7.0E-06
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs121918014
rs121918014 		0.827 0.120 1 21576582 missense variant A/G snv 2.0E-05 5.6E-05
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.020 1.000 2 2001 2013
dbSNP: rs1054159992
rs1054159992 		0.925 0.080 1 21577448 missense variant G/A;T snv 7.0E-06
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2002 2002
dbSNP: rs138690664
rs138690664 		0.851 0.120 1 21577421 missense variant C/G;T snv 1.6E-05 3.5E-05
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1436960562
rs1436960562 		1.000 0.080 1 21576603 missense variant T/C snv 7.0E-06
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs150594290
rs150594290 		1.000 0.080 1 21575894 missense variant G/A snv
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2002 2002
dbSNP: rs150799088
rs150799088 		0.925 0.080 1 21577422 missense variant G/A snv 7.7E-05 7.0E-06
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs567349821
rs567349821 		0.925 0.120 1 21575812 missense variant C/G;T snv 2.0E-05; 1.6E-05
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs761079751
rs761079751 		1.000 0.080 1 21577556 missense variant G/A;C snv 2.1E-05; 1.2E-05
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 1996 1996
dbSNP: rs771540767
rs771540767 		0.882 0.080 1 21575879 missense variant G/A snv 4.0E-06
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2002 2002