Gene: COL6A3 ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs878854379
rs878854379
COL6A3
2 0.925 0.120 2 237344754 stop gained G/A;C snv 4.1E-06 0.700 1.000 1 2016 2016
dbSNP: rs797044988
rs797044988
COL6A3
3 0.882 0.160 2 237359390 splice acceptor variant T/G snv 0.700 0