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: rs398124126
rs398124126
COL6A3
3 0.882 0.160 2 237361120 splice donor variant C/T snv 0.700 1.000 2 2005 2009
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
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
dbSNP: rs886043113
rs886043113
COL6A3
1 1.000 0.160 2 237347812 stop gained G/A snv 4.1E-06 0.010 1.000 1 2002 2002
dbSNP: rs886043919
rs886043919
COL6A3
2 0.925 0.160 2 237359361 splice donor variant C/A;T snv 0.700 1.000 1 2008 2008
dbSNP: rs112638391
rs112638391
COL6A3
1 1.000 0.160 2 237374900 missense variant C/T snv 3.0E-03 3.0E-03 0.700 0
dbSNP: rs121434554
rs121434554
COL6A3
1 1.000 0.160 2 237381419 stop gained G/A snv 0.700 0
dbSNP: rs398124119
rs398124119
COL6A3
3 0.882 0.160 2 237395121 stop gained G/A snv 4.4E-05 2.8E-05 0.700 0
dbSNP: rs764193290
rs764193290
COL6A3
3 0.882 0.160 2 237342163 splice acceptor variant T/- del 4.0E-06 0.700 0
dbSNP: rs771941724
rs771941724
COL6A3
1 1.000 0.160 2 237363366 stop gained G/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs797044988
rs797044988
COL6A3
3 0.882 0.160 2 237359390 splice acceptor variant T/G snv 0.700 0
dbSNP: rs121912938
rs121912938
COL6A1
3 0.882 0.160 21 45989129 missense variant G/A snv 0.700 1.000 4 2005 2010
dbSNP: rs387906608
rs387906608
COL6A2
1 1.000 0.160 21 46132118 missense variant C/A;G;T snv 5.2E-06; 2.1E-05 0.810 1.000 4 2005 2010
dbSNP: rs121912939
rs121912939
COL6A1
3 0.882 0.160 21 45989617 missense variant G/A;C;T snv 0.700 1.000 3 2005 2007
dbSNP: rs75120695
rs75120695
COL6A2
1 1.000 0.160 21 46126166 missense variant G/A;C snv 4.4E-03 0.700 1.000 2 2005 2005
dbSNP: rs1569517943
rs1569517943
COL6A1
1 1.000 0.160 21 45987637 missense variant G/T snv 0.700 1.000 1 2013 2013
dbSNP: rs267606746
rs267606746
COL6A1
1 1.000 0.160 21 45989120 missense variant G/A snv 0.800 1.000 1 2010 2010
dbSNP: rs387906607
rs387906607
COL6A2
1 1.000 0.160 21 46125518 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs113828929
rs113828929
COL6A2
1 1.000 0.160 21 46126238 splice donor variant G/A;C snv 4.2E-06; 4.2E-06 0.700 0
dbSNP: rs121912937
rs121912937
COL6A1
1 1.000 0.160 21 46001981 stop gained C/G;T snv 2.5E-05 0.700 0
dbSNP: rs1255514828
rs1255514828
COL6A2
1 1.000 0.160 21 46132002 missense variant T/C snv 4.2E-06 7.0E-06 0.700 0
dbSNP: rs137964147
rs137964147
COL6A1
1 1.000 0.160 21 45982738 missense variant C/T snv 5.5E-04 5.7E-04 0.700 0
dbSNP: rs150168522
rs150168522
COL6A2
4 0.925 0.160 21 46132367 missense variant G/A;C snv 4.9E-05; 2.9E-05 0.700 0
dbSNP: rs1568931397
rs1568931397
COL6A2
1 1.000 0.160 21 46118604 intron variant A/G snv 0.700 0
dbSNP: rs1569518138
rs1569518138
COL6A1
1 1.000 0.160 21 45989713 intron variant A/G snv 0.700 0