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: rs121918018
rs121918018
ALPL
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) 		0.700 1.000 20 1992 2013
dbSNP: rs121918018
rs121918018
ALPL
0.882 0.120 1 21568201 missense variant G/C;T snv 1.6E-05; 4.0E-06
CUI: C0220743
Disease: Childhood hypophosphatasia (disorder)
Childhood hypophosphatasia (disorder) 		0.700 0
dbSNP: rs121918018
rs121918018
ALPL
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) 		0.700 0