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: rs267607618
rs267607618
LMNA
1.000 0.080 1 156136350 stop gained C/T snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 2 2009 2013
dbSNP: rs267607618
rs267607618
LMNA
1.000 0.080 1 156136350 stop gained C/T snv
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 1 2009 2009