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: rs373072443
rs373072443
COL6A2
1 1.000 0.120 21 46131980 missense variant C/T snv 3.4E-05 2.8E-05 0.010 1.000 1 2009 2009
dbSNP: rs761310536
rs761310536
COL6A2
2 1.000 0.120 21 46121115 missense variant G/A snv 1.2E-05 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs121912938
rs121912938
COL6A1
3 0.882 0.160 21 45989129 missense variant G/A snv 0.700 1.000 9 1994 2014
dbSNP: rs1556425566
rs1556425566
COL6A1
1 1.000 0.120 21 45989753 missense variant G/A snv 0.700 1.000 6 1993 2013
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
dbSNP: rs35227432
rs35227432
COL6A3
1 1.000 0.120 2 237379103 missense variant C/A;T snv 8.0E-06; 1.5E-03 0.700 1.000 5 1998 2010
dbSNP: rs397515332
rs397515332
COL6A3
1 1.000 0.120 2 237361138 missense variant C/G;T snv 0.700 1.000 5 1994 2017
dbSNP: rs398123631
rs398123631
COL6A1
2 0.925 0.120 21 45990827 splice donor variant G/A snv 0.700 1.000 5 1999 2013
dbSNP: rs727502827
rs727502827
COL6A2
1 1.000 0.120 21 46116010 missense variant G/A;T snv 0.700 1.000 5 1993 2013
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: rs886043321
rs886043321
COL6A1
1 1.000 0.120 21 45990791 missense variant G/C;T snv 0.700 1.000 5 2005 2018
dbSNP: rs886043351
rs886043351
COL6A1
1 1.000 0.120 21 45987638 missense variant G/A;T snv 0.700 1.000 5 1993 2013
dbSNP: rs886043737
rs886043737
COL6A3
1 1.000 0.120 2 237360158 missense variant C/T snv 0.700 1.000 5 1993 2013
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