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: rs121918007
rs121918007
ALPL
0.851 0.080 1 21564139 missense variant G/A;C snv 2.4E-03; 4.0E-06
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		0.810 1.000 20 1992 2013
dbSNP: rs121918007
rs121918007
ALPL
0.851 0.080 1 21564139 missense variant G/A;C snv 2.4E-03; 4.0E-06
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia 		0.710 1.000 6 1992 2014
dbSNP: rs121918007
rs121918007
ALPL
0.851 0.080 1 21564139 missense variant G/A;C snv 2.4E-03; 4.0E-06
CUI: C0220743
Disease: Childhood hypophosphatasia (disorder)
Childhood hypophosphatasia (disorder) 		0.710 1.000 5 1992 2014
dbSNP: rs121918007
rs121918007
ALPL
0.851 0.080 1 21564139 missense variant G/A;C snv 2.4E-03; 4.0E-06
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		0.700 1.000 5 1999 2009