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: rs1555600730
rs1555600730
GAA
1.000 0.120 17 80110725 splice acceptor variant A/G snv
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.700 1.000 4 1990 2014