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: rs1553264624
rs1553264624
LMNA
1.000 0.120 1 156130724 inframe deletion AGCGCACGCTGGAGG/- del
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		0.700 0