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: rs886044252
rs886044252
COL6A3
1 1.000 0.120 2 237360150 missense variant C/T snv 0.700 1.000 5 1994 2013
dbSNP: rs11903206
rs11903206
COL6A3
1 1.000 0.120 2 237336278 missense variant G/A snv 3.9E-03 1.4E-02 0.700 1.000 4 1998 2007
dbSNP: rs146092501
rs146092501
COL6A3
1 1.000 0.120 2 237371861 missense variant C/T snv 6.2E-03 5.9E-03 0.700 1.000 4 1998 2007
dbSNP: rs1555873356
rs1555873356
COL6A2
1 1.000 0.120 21 46117398 splice acceptor variant A/C;G snv 0.700 1.000 4 2007 2010
dbSNP: rs727502828
rs727502828
COL6A2
1 1.000 0.120 21 46116027 missense variant G/A;C snv 0.700 1.000 4 1994 2013
dbSNP: rs794727418
rs794727418
COL6A2
1 1.000 0.120 21 46125913 missense variant G/A snv 4.0E-06 0.700 1.000 4 1996 2007
dbSNP: rs886042332
rs886042332
COL6A2
1 1.000 0.120 21 46121593 missense variant G/A snv 4.0E-06 2.1E-05 0.700 1.000 4 1994 2013
dbSNP: rs886042883
rs886042883
COL6A3
2 1.000 0.120 2 237359205 splice donor variant C/A;T snv 0.700 1.000 4 2005 2017
dbSNP: rs112814811
rs112814811
COL6A1
1 1.000 0.120 21 45998397 splice acceptor variant G/A;C snv 0.700 1.000 3 2008 2011
dbSNP: rs1230578718
rs1230578718
COL6A3
1 1.000 0.120 2 237380914 splice donor variant C/A snv 7.0E-06 0.700 1.000 3 2005 2010
dbSNP: rs1268762655
rs1268762655
COL6A3
1 1.000 0.120 2 237350173 missense variant C/T snv 7.0E-06 0.700 1.000 3 1994 2013
dbSNP: rs1553553267
rs1553553267
COL6A3
1 1.000 0.120 2 237359235 splice acceptor variant TTCTCCTACTTCGCCCTAAGAGGGAATAAGGCGGACAGGTAAGT/- delins 0.700 1.000 3 2005 2010
dbSNP: rs1553553646
rs1553553646
COL6A3
1 1.000 0.120 2 237360140 missense variant C/A;T snv 0.700 1.000 3 1994 2013
dbSNP: rs1555877252
rs1555877252
COL6A2
1 1.000 0.120 21 46132064 stop gained C/T snv 0.700 1.000 3 2009 2015
dbSNP: rs1559225993
rs1559225993
COL6A3
1 1.000 0.120 2 237359252 splice acceptor variant T/C snv 0.700 1.000 3 2005 2010
dbSNP: rs1568928804
rs1568928804
COL6A2
1 1.000 0.120 21 46115909 missense variant G/A snv 0.700 1.000 3 1994 2013
dbSNP: rs1568929639
rs1568929639
COL6A2
1 1.000 0.120 21 46116767 splice acceptor variant CAG/AA delins 0.700 1.000 3 2008 2010
dbSNP: rs1569519030
rs1569519030
COL6A1
1 1.000 0.120 21 46001252 splice acceptor variant G/T snv 0.700 1.000 3 2008 2011
dbSNP: rs387906609
rs387906609
COL6A2
2 0.925 0.120 21 46117916 stop gained C/T snv 4.0E-06 0.700 1.000 3 2009 2014
dbSNP: rs794727715
rs794727715
COL6A2
1 1.000 0.120 21 46114074 splice donor variant G/A;T snv 0.700 1.000 3 2008 2010
dbSNP: rs886042354
rs886042354
COL6A1
1 1.000 0.120 21 45990257 splice acceptor variant G/A;C snv 0.700 1.000 3 2008 2011
dbSNP: rs886043919
rs886043919
COL6A3
2 0.925 0.160 2 237359361 splice donor variant C/A;T snv 0.700 1.000 3 2007 2013
dbSNP: rs886044088
rs886044088
COL6A2
1 1.000 0.120 21 46115918 missense variant G/A snv 0.700 1.000 3 1994 2013
dbSNP: rs1556425717
rs1556425717
COL6A1
1 1.000 0.120 21 45990376 splice acceptor variant A/G snv 0.700 1.000 2 2009 2010
dbSNP: rs1556425835
rs1556425835
COL6A1
1 1.000 0.120 21 45990771 splice acceptor variant A/- del 0.700 1.000 2 2009 2010