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: rs121918000
rs121918000
ALPL
0.925 0.080 1 21564103 missense variant G/A snv 1.2E-05
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		0.700 1.000 20 1992 2013
dbSNP: rs121918000
rs121918000
ALPL
0.925 0.080 1 21564103 missense variant G/A snv 1.2E-05
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		0.700 1.000 5 1988 2012