Source: ALL

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: rs58571998
rs58571998
LMNA
0.925 0.160 1 156137197 frameshift variant -/CTGC delins
CUI: C0410189
Disease: Muscular Dystrophy, Emery-Dreifuss
Muscular Dystrophy, Emery-Dreifuss 		0.010 1.000 1 2003 2003
dbSNP: rs58571998
rs58571998
LMNA
0.925 0.160 1 156137197 frameshift variant -/CTGC delins
CUI: C0033300
Disease: Progeria
Progeria 		0.010 1.000 1 2006 2006