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: rs121918013
rs121918013
0.827 0.120 1 21563158 missense variant G/A snv
CUI: C1840322
Disease: ODONTOHYPOPHOSPHATASIA (disorder)
ODONTOHYPOPHOSPHATASIA (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs121918015
rs121918015
0.882 0.160 1 21563135 missense variant C/T snv
CUI: C1840322
Disease: ODONTOHYPOPHOSPHATASIA (disorder)
ODONTOHYPOPHOSPHATASIA (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs121918018
rs121918018
0.882 0.120 1 21568201 missense variant G/C;T snv 1.6E-05; 4.0E-06
CUI: C1840322
Disease: ODONTOHYPOPHOSPHATASIA (disorder)
ODONTOHYPOPHOSPHATASIA (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Stomatognathic Diseases 0.700 0
dbSNP: rs200621180
rs200621180
1.000 0.120 1 21563266 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C1840322
Disease: ODONTOHYPOPHOSPHATASIA (disorder)
ODONTOHYPOPHOSPHATASIA (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Stomatognathic Diseases 0.010 1.000 1 2013 2013