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: rs199669988
rs199669988
ALPL
0.882 0.080 1 21564097 missense variant G/A snv 1.3E-04 3.5E-05
CUI: C0020630
Disease: Hypophosphatasia
Hypophosphatasia 		0.700 1.000 7 1998 2018
dbSNP: rs199669988
rs199669988
ALPL
0.882 0.080 1 21564097 missense variant G/A snv 1.3E-04 3.5E-05
CUI: C0220743
Disease: Childhood hypophosphatasia (disorder)
Childhood hypophosphatasia (disorder) 		0.700 0
dbSNP: rs199669988
rs199669988
ALPL
0.882 0.080 1 21564097 missense variant G/A snv 1.3E-04 3.5E-05
CUI: C0268413
Disease: Adult hypophosphatasia (disorder)
Adult hypophosphatasia (disorder) 		0.700 0