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: rs267607592
rs267607592
LMNA
1.000 0.080 1 156137233 splice donor variant G/A snv
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		0.700 1.000 2 2005 2009