rs113436208, LMNA

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.
Progeria
CUI: C0033300
Disease: Progeria
41 0.925 0.160 1 156138758 splice donor variant G/A;C snv 0.700 1.000 1 2007 2007
Lethal tight skin contracture syndrome (disorder)
10 0.925 0.160 1 156138758 splice donor variant G/A;C snv 0.700 0