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: rs398123799
rs398123799
DYSF
0.925 0.120 2 71681032 frameshift variant -/A delins
CUI: C2931687
Disease: Dysferlinopathy
Dysferlinopathy 		0.700 1.000 12 2000 2017