rs1569369940, LAMP2

N. diseases: 1
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 1.000 0.160 X 120449056 stop gained -/AAACTATTGCATCTAAAAAGGTCATTCAATGGAATTCTGATGGCCAAAAGTTCAT delins 0.700 1.000 1 2005 2005