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: rs139552940
rs139552940
COL6A2
21 46131981 missense variant G/A snv 5.9E-05 4.2E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs774521989
rs774521989
COL6A2
21 46132125 missense variant C/T snv 1.6E-05 4.9E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs797045478
rs797045478
COL6A2
21 46116045 missense variant G/A snv
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0