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: rs398123640
rs398123640
COL6A1
1.000 0.120 21 45989093 missense variant G/A;C snv
CUI: C1854301
Disease: Motor delay
Motor delay 		0.700 0