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: rs121918010
rs121918010
ALPL
0.827 0.200 1 21573781 missense variant T/C snv 7.2E-05 4.2E-05
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		0.810 1.000 9 1994 2014
dbSNP: rs121918010
rs121918010
ALPL
0.827 0.200 1 21573781 missense variant T/C snv 7.2E-05 4.2E-05
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		0.800 1.000 21 1992 2013
dbSNP: rs121918010
rs121918010
ALPL
0.827 0.200 1 21573781 missense variant T/C snv 7.2E-05 4.2E-05
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia 		0.730 1.000 5 1996 2014