rs727503118, LAMP2

N. diseases: 2
Source: ALL
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.
Glycogen Storage Disease Type IIb
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
40 0.925 0.160 X 120442650 stop gained G/A;T snv 9.8E-05 0.700 1.000 3 2010 2012
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.925 0.160 X 120442650 stop gained G/A;T snv 9.8E-05 0.700 1.000 3 2010 2012