Disease: Adult hypophosphatasia (disorder) ×
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: rs121918007
rs121918007 		0.851 0.080 1 21564139 missense variant G/A;C snv 2.4E-03; 4.0E-06
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 21 1992 2013
dbSNP: rs121918010
rs121918010 		0.827 0.200 1 21573781 missense variant T/C snv 7.2E-05 4.2E-05
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 21 1992 2013
dbSNP: rs121918002
rs121918002 		0.851 0.080 1 21573683 missense variant A/C snv 3.6E-05 7.0E-05
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 20 1992 2013
dbSNP: rs121918008
rs121918008 		0.851 0.080 1 21575868 missense variant A/T snv 4.0E-06 7.0E-06
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 20 1992 2013
dbSNP: rs121918009
rs121918009 		0.851 0.080 1 21575736 missense variant G/A snv
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 20 1992 2013
dbSNP: rs121918011
rs121918011 		0.851 0.080 1 21563219 missense variant G/A;C snv 1.4E-04
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 20 1992 2013
dbSNP: rs121918013
rs121918013 		0.827 0.120 1 21563158 missense variant G/A snv
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 20 1992 2013
dbSNP: rs121918019
rs121918019 		0.882 0.080 1 21564094 missense variant G/A;C snv 9.2E-05
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 20 1992 2013
dbSNP: rs786204530
rs786204530 		0.851 0.160 1 21563212 missense variant AC/CA mnv
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 20 1992 2013
dbSNP: rs1413274209
rs1413274209 		0.882 0.080 1 21577544 missense variant G/A snv 8.3E-06 2.1E-05
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 0
dbSNP: rs121918000
rs121918000 		0.925 0.080 1 21564103 missense variant G/A snv 1.2E-05
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 20 1992 2013
dbSNP: rs121918001
rs121918001 		0.882 0.080 1 21561126 missense variant C/A;T snv
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 20 1992 2013
dbSNP: rs121918003
rs121918003 		0.925 0.080 1 21561127 missense variant G/A;C snv 4.0E-06; 1.2E-05
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 20 1992 2013
dbSNP: rs121918004
rs121918004 		0.925 0.080 1 21564188 missense variant A/C snv
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 20 1992 2013
dbSNP: rs121918005
rs121918005 		0.925 0.080 1 21560662 missense variant C/G;T snv 4.0E-06; 1.2E-05
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 20 1992 2013
dbSNP: rs121918006
rs121918006 		0.925 0.080 1 21576638 missense variant T/C snv
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 20 1992 2013
dbSNP: rs121918012
rs121918012 		1.000 0.080 1 21564053 missense variant G/T snv
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 20 1992 2013
dbSNP: rs121918014
rs121918014 		0.827 0.120 1 21576582 missense variant A/G snv 2.0E-05 5.6E-05
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 20 1992 2013
dbSNP: rs121918015
rs121918015 		0.882 0.160 1 21563135 missense variant C/T snv
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 20 1992 2013
dbSNP: rs121918018
rs121918018 		0.882 0.120 1 21568201 missense variant G/C;T snv 1.6E-05; 4.0E-06
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 20 1992 2013
dbSNP: rs1220125702
rs1220125702 		1.000 0.080 1 21573686 missense variant T/C snv 8.0E-06 7.0E-06
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 20 1992 2013
dbSNP: rs1223142821
rs1223142821 		1.000 0.080 1 21568193 missense variant G/T snv 4.0E-06
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 20 1992 2013
dbSNP: rs1304394441
rs1304394441 		1.000 0.080 1 21561138 missense variant G/A snv
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 20 1992 2013
dbSNP: rs1442918125
rs1442918125 		0.925 0.080 1 21575907 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 20 1992 2013
dbSNP: rs149344982
rs149344982 		1.000 0.080 1 21563267 missense variant G/A snv 1.2E-02 8.6E-03
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 20 1992 2013