Gene: COL6A3 ×
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: 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: 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: rs761796175
rs761796175
COL6A3
1 1.000 0.120 2 237377336 stop gained G/A snv 4.2E-06 0.700 0
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: 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: 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: 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: rs1553553646
rs1553553646
COL6A3
1 1.000 0.120 2 237360140 missense variant C/A;T snv 0.700 1.000 3 1994 2013
dbSNP: rs121434555
rs121434555
COL6A3
1 1.000 0.120 2 237367010 missense variant A/C snv 0.800 1.000 1 2010 2010
dbSNP: rs200478135
rs200478135
COL6A3
1 1.000 0.120 2 237363363 missense variant C/T snv 4.8E-05 3.5E-05 0.700 1.000 1 2010 2010
dbSNP: rs794727188
rs794727188
COL6A3
1 1.000 0.120 2 237360131 missense variant C/T snv 0.800 1.000 1 2010 2010
dbSNP: rs114284669
rs114284669
COL6A3
1 1.000 0.120 2 237376802 missense variant T/C;G snv 2.1E-04 0.700 0
dbSNP: rs121434553
rs121434553
COL6A3
1 1.000 0.120 2 237367151 missense variant C/T snv 0.800 0
dbSNP: rs139260335
rs139260335
COL6A3
1 1.000 0.120 2 237344571 missense variant T/C snv 6.1E-04 5.6E-04 0.700 0
dbSNP: rs535661345
rs535661345
COL6A3
3 0.925 0.120 2 237372173 missense variant C/T snv 2.0E-04 2.1E-05 0.700 0
dbSNP: rs763348222
rs763348222
COL6A3
1 1.000 0.120 2 237348645 missense variant C/T snv 6.4E-05 0.700 0
dbSNP: rs766488017
rs766488017
COL6A3
1 1.000 0.120 2 237371896 missense variant T/A snv 1.0E-04 4.2E-05 0.700 0
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