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: rs58596362
rs58596362
LMNA
0.827 0.280 1 156138613 splice region variant C/A;T snv 8.1E-06
CUI: C0033300
Disease: Progeria
Progeria 		0.790 0.917 3 2003 2018
dbSNP: rs58596362
rs58596362
LMNA
0.827 0.280 1 156138613 splice region variant C/A;T snv 8.1E-06
CUI: C0270914
Disease: Hereditary Motor and Sensory-Neuropathy Type II
Hereditary Motor and Sensory-Neuropathy Type II 		0.700 1.000 9 2003 2017
dbSNP: rs58596362
rs58596362
LMNA
0.827 0.280 1 156138613 splice region variant C/A;T snv 8.1E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		0.700 1.000 1 2003 2003
dbSNP: rs58596362
rs58596362
LMNA
0.827 0.280 1 156138613 splice region variant C/A;T snv 8.1E-06
CUI: C0406585
Disease: Lethal tight skin contracture syndrome (disorder)
Lethal tight skin contracture syndrome (disorder) 		0.700 0