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: rs747900252
rs747900252
COL6A2
6 0.925 0.160 21 46125776 intron variant G/A snv 1.1E-04 7.7E-05 0.700 1.000 5 2009 2015
dbSNP: rs1556425596
rs1556425596
COL6A1
37 0.752 0.240 21 45989967 intron variant C/T snv 0.700 1.000 1 2017 2017
dbSNP: rs1555877252
rs1555877252
COL6A2
1 1.000 0.120 21 46132064 stop gained C/T snv 0.700 1.000 3 2009 2015
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: rs374669775
rs374669775
COL6A2
1 1.000 0.120 21 46121067 stop gained C/T snv 1.2E-05 0.700 1.000 1 2013 2013
dbSNP: rs763187844
rs763187844
COL6A3
1 1.000 0.120 2 237396742 stop gained G/A snv 4.0E-06 1.4E-05 0.700 1.000 1 2010 2010
dbSNP: rs878854379
rs878854379
COL6A3
2 0.925 0.120 2 237344754 stop gained G/A;C snv 4.1E-06 0.700 1.000 1 2016 2016
dbSNP: rs138948335
rs138948335
COL6A2
1 1.000 0.120 21 46125817 stop gained G/A;T snv 1.0E-04 1.4E-05 0.700 0
dbSNP: rs1553561409
rs1553561409
COL6A3
1 1.000 0.120 2 237377222 stop gained G/A snv 0.700 0
dbSNP: rs1559261557
rs1559261557
COL6A3
1 1.000 0.120 2 237381113 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: rs751987553
rs751987553
COL6A2
2 0.925 0.120 21 46125301 stop gained C/A;T snv 2.8E-05 0.700 0
dbSNP: rs752730608
rs752730608
COL6A2
1 1.000 0.120 21 46119812 stop gained A/G;T snv 2.8E-05 0.700 0
dbSNP: rs761796175
rs761796175
COL6A3
1 1.000 0.120 2 237377336 stop gained G/A snv 4.2E-06 0.700 0
dbSNP: rs121912939
rs121912939
COL6A1
3 0.882 0.160 21 45989617 missense variant G/A;C;T snv 0.800 1.000 11 1994 2017
dbSNP: rs121912938
rs121912938
COL6A1
3 0.882 0.160 21 45989129 missense variant G/A snv 0.700 1.000 9 1994 2014
dbSNP: rs121912936
rs121912936
COL6A1
1 1.000 0.120 21 45984403 missense variant A/G snv 0.800 1.000 7 1996 2017
dbSNP: rs398123643
rs398123643
COL6A1
2 1.000 0.120 21 45989626 missense variant G/A snv 0.710 1.000 7 2010 2019
dbSNP: rs1556425566
rs1556425566
COL6A1
1 1.000 0.120 21 45989753 missense variant G/A snv 0.700 1.000 6 1993 2013
dbSNP: rs121912935
rs121912935
COL6A1
1 1.000 0.120 21 45990792 missense variant G/A;T snv 0.800 1.000 5 1996 2010
dbSNP: rs121912940
rs121912940
COL6A2
1 1.000 0.120 21 46115881 missense variant G/A snv 0.800 1.000 5 1996 2010
dbSNP: rs138049094
rs138049094
COL6A3
1 1.000 0.120 2 237369064 missense variant T/C snv 5.1E-04 3.0E-04 0.700 1.000 5 1998 2010
dbSNP: rs1556425468
rs1556425468
COL6A1
1 1.000 0.120 21 45989103 missense variant G/T snv 0.700 1.000 5 1993 2013
dbSNP: rs201093313
rs201093313
COL6A1
1 1.000 0.120 21 45989100 missense variant C/G;T snv 4.0E-06; 2.4E-05 0.700 1.000 5 1996 2010
dbSNP: rs267606748
rs267606748
COL6A2
3 0.882 0.160 21 46115917 missense variant G/A snv 0.700 1.000 5 1993 2013