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: rs121918015
rs121918015
ALPL
0.882 0.160 1 21563135 missense variant C/T snv
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		0.700 1.000 20 1992 2013
dbSNP: rs121918015
rs121918015
ALPL
0.882 0.160 1 21563135 missense variant C/T snv
CUI: C1840322
Disease: ODONTOHYPOPHOSPHATASIA (disorder)
ODONTOHYPOPHOSPHATASIA (disorder) 		0.700 0