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: rs864309525
rs864309525
LMNA
0.925 0.120 1 156115007 inframe deletion GAG/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 0