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: 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: 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: 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: 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: 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: rs1256328
rs1256328 		0.925 0.120 1 21570274 intron variant C/T snv 0.16 0.14
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.720 1.000 3 2015 2019
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: rs121918007
rs121918007 		0.851 0.080 1 21564139 missense variant G/A;C snv 2.4E-03; 4.0E-06
CUI: C0220743
Disease: Childhood hypophosphatasia (disorder)
Childhood hypophosphatasia (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 6 1992 2014
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: 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: 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: 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