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: rs535661345
rs535661345
COL6A3
0.925 0.120 2 237372173 missense variant C/T snv 2.0E-04 2.1E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs535661345
rs535661345
COL6A3
0.925 0.120 2 237372173 missense variant C/T snv 2.0E-04 2.1E-05
CUI: C1834674
Disease: BETHLEM MYOPATHY 1
BETHLEM MYOPATHY 1 		0.700 0
dbSNP: rs535661345
rs535661345
COL6A3
0.925 0.120 2 237372173 missense variant C/T snv 2.0E-04 2.1E-05
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0