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: rs371243939
rs371243939
ALPL
0.882 0.080 1 21575906 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		0.700 1.000 4 1999 2009
dbSNP: rs371243939
rs371243939
ALPL
0.882 0.080 1 21575906 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		0.700 0
dbSNP: rs371243939
rs371243939
ALPL
0.882 0.080 1 21575906 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C0220743
Disease: Childhood hypophosphatasia (disorder)
Childhood hypophosphatasia (disorder) 		0.700 0