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: rs121908334
rs121908334
LDB3
0.925 0.080 10 86687218 missense variant C/T snv 4.0E-06
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 0
dbSNP: rs775180716
rs775180716
LDB3
1.000 0.080 10 86692544 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C2678065
Disease: Myofibrillar Myopathy
Myofibrillar Myopathy 		0.700 0