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: rs1564773589
rs1564773589
0.925 0.080 10 119669946 frameshift variant -/T delins
CUI: C3151293
Disease: CARDIOMYOPATHY, DILATED, 1HH
CARDIOMYOPATHY, DILATED, 1HH
0.700 0
dbSNP: rs1564773589
rs1564773589
0.925 0.080 10 119669946 frameshift variant -/T delins
Myopathy, Myofibrillar, Bag3-Related
0.700 0