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: rs121918011
rs121918011
ALPL
0.851 0.080 1 21563219 missense variant G/A;C snv 1.4E-04
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		0.800 1.000 20 1992 2013
dbSNP: rs121918011
rs121918011
ALPL
0.851 0.080 1 21563219 missense variant G/A;C snv 1.4E-04
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		0.700 1.000 11 1999 2018
dbSNP: rs121918011
rs121918011
ALPL
0.851 0.080 1 21563219 missense variant G/A;C snv 1.4E-04
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia 		0.700 1.000 8 1999 2016
dbSNP: rs121918011
rs121918011
ALPL
0.851 0.080 1 21563219 missense variant G/A;C snv 1.4E-04
CUI: C0220743
Disease: Childhood hypophosphatasia (disorder)
Childhood hypophosphatasia (disorder) 		0.700 0