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: rs397517643
rs397517643
0.923 0.143 2 178592914 frameshift variant AC/A in-del
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
0.700 2 2015 2017
dbSNP: rs397517643
rs397517643
0.923 0.143 2 178592914 frameshift variant AC/A in-del
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g
0.700 2 2015 2017
dbSNP: rs397517643
rs397517643
0.923 0.143 2 178592914 frameshift variant AC/A in-del
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated
0.700 1 2013 2013