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: rs778940391
rs778940391
COL6A3
1 1.000 0.160 2 237367167 missense variant C/T snv 1.6E-04 9.1E-05 0.700 1.000 1 2005 2005