Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121918013
rs121918013
ALPL
0.827 0.120 1 21563158 missense variant G/A snv
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		0.800 1.000 20 1992 2013
dbSNP: rs121918013
rs121918013
ALPL
0.827 0.120 1 21563158 missense variant G/A snv
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia 		0.710 1.000 2 2009 2015
dbSNP: rs121918013
rs121918013
ALPL
0.827 0.120 1 21563158 missense variant G/A snv
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		0.700 1.000 5 2000 2011
dbSNP: rs121918013
rs121918013
ALPL
0.827 0.120 1 21563158 missense variant G/A snv
CUI: C0220743
Disease: Childhood hypophosphatasia (disorder)
Childhood hypophosphatasia (disorder) 		0.700 0
dbSNP: rs121918013
rs121918013
ALPL
0.827 0.120 1 21563158 missense variant G/A snv
CUI: C1840322
Disease: ODONTOHYPOPHOSPHATASIA (disorder)
ODONTOHYPOPHOSPHATASIA (disorder) 		0.700 0