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: rs121918014
rs121918014
ALPL
0.827 0.120 1 21576582 missense variant A/G snv 2.0E-05 5.6E-05
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		0.700 1.000 20 1992 2013
dbSNP: rs121918014
rs121918014
ALPL
0.827 0.120 1 21576582 missense variant A/G snv 2.0E-05 5.6E-05
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		0.700 1.000 6 2001 2017
dbSNP: rs121918014
rs121918014
ALPL
0.827 0.120 1 21576582 missense variant A/G snv 2.0E-05 5.6E-05
CUI: C2673477
Disease: Hypophosphatasia, Perinatal Lethal
Hypophosphatasia, Perinatal Lethal 		0.700 0