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: rs1057518925
rs1057518925
COL6A2
4 1.000 0.120 21 46114006 splice acceptor variant A/G snv 0.700 0