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: rs727504597
rs727504597
LAMP2
1.000 0.160 X 120441803 frameshift variant A/- del
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
Glycogen Storage Disease Type IIb 		0.700 0
dbSNP: rs727504597
rs727504597
LAMP2
1.000 0.160 X 120441803 frameshift variant A/- del
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 0