Source: CLINVAR

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: rs387906525
rs387906525
ALPL
0.925 0.080 1 21577632 frameshift variant T/- del 8.7E-06; 1.3E-05
CUI: C0268412
Disease: Infantile hypophosphatasia
Infantile hypophosphatasia 		0.700 1.000 5 1998 2010