rs727504597, LAMP2

N. diseases: 2
Source: CLINVAR ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Cardiomyopathy, Dilated
CUI: C0007193
Disease: Cardiomyopathy, Dilated
443 1.000 0.160 X 120441803 frameshift variant A/- del 0.700 0
Glycogen Storage Disease Type IIb
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
37 1.000 0.160 X 120441803 frameshift variant A/- del 0.700 0