Gene: COL6A3 ×
Source: CLINVAR ×
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: rs886042883
rs886042883
COL6A3
2 1.000 0.120 2 237359205 splice donor variant C/A;T snv 0.700 1.000 13 2001 2016