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: rs80272723
rs80272723
COL6A3
1 1.000 0.160 2 237371833 missense variant C/A;T snv 1.0E-02 0.700 1.000 1 2005 2005