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: 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: 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: rs121434554
rs121434554
COL6A3
1 1.000 0.160 2 237381419 stop gained G/A snv 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
dbSNP: rs1569518677
rs1569518677
COL6A1
1 1.000 0.160 21 45997721 missense variant C/T snv 0.700 0
dbSNP: rs267606747
rs267606747
COL6A2
2 0.925 0.160 21 46126144 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs267606748
rs267606748
COL6A2
3 0.882 0.160 21 46115917 missense variant G/A snv 0.700 0
dbSNP: rs267606749
rs267606749
COL6A2
1 1.000 0.160 21 46121590 missense variant G/A snv 2.4E-05 4.9E-05 0.700 0
dbSNP: rs398122821
rs398122821
COL6A2
1 1.000 0.160 21 46125501 inframe deletion TCATCG/- delins 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: rs748035948
rs748035948
COL6A2
1 1.000 0.160 21 46125265 splice acceptor variant G/T snv 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: rs797044457
rs797044457
COL6A1
1 1.000 0.160 21 45989135 frameshift variant C/- delins 0.700 0
dbSNP: rs797044458
rs797044458
COL6A1
1 1.000 0.160 21 45997703 frameshift variant G/- del 0.700 0
dbSNP: rs797044988
rs797044988
COL6A3
3 0.882 0.160 2 237359390 splice acceptor variant T/G snv 0.700 0
dbSNP: rs886039905
rs886039905
COL6A2
4 0.882 0.240 21 46125854 frameshift variant -/T delins 0.700 0
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: 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