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: 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: rs1553553313
rs1553553313
COL6A3
1 1.000 0.120 2 237359334 splice acceptor variant TTTGTAAAACAAAACCAAGCTTGCATACCTTCTCTCCTGGGAATCCCCGAGAGCCCTAGAAGGCAAGGCGATAGGGGAAGCATTAGCTTTTCCTGCAGGGCTGGTCCCTCGGGCAGAAGAGGCCAAGGGCTGTTCCCCCACTCCACCCCATTTGAATGTTGCAGTGTCTGAAAATGTAATATTAGAGTCCTACCCCTTTGGATTCCTCTCTCACCACCACGTGCGATGTTTTAAAACTAAAACTAGAACTGAATGCTTGGGTGGTCTTGGCTCCCTGGGCCGGCGGGGGTGGACCCCAAAACCCAGGGCAAGGAGCTGACTTTGTAACTTTGCAGCCCTTCCCTTCAGCACCTGCCTTCAAACTTCAGCAAACAGAGAAGCAAGTTCACCAGCCTTCAACCCACCTGCTGTCCTCTCACTCCACTCCCTTCCCTGACTGCTCCCACGGTCCAGGGCCGGGGCCGTGGGCACCAGCCTACCCTCCGCCCTGGCCCATGTTCTCTCCTTGTGAGGGTTTCCTGGCTTCTTCATGTTTCCACAGGAAACTATTTCTCCATTCTCAGGCTCCCCACCAGCTGCAGCCCCTGCTCCTGAACCCACCCTGCTCAGAACTGCCTTCCAATGAGAGGTCACGGGCTGCTGAATGCTGAGGTCAAGAAGCCTGGACCAGCGCCTCCCTCCCTGGCAGCATCTGGAGAAACTGCGAGTCACCTGACCCCTCCCCACGCTAGCAACCCCATCACCCACGCCTCACCTTTACTCCTCTCTGGCCCGGGCAGCCCTGGAAACCTTGAGTGCCGTTCACACCAGGCGGACCACGCTCAC/- del 0.700 0
dbSNP: rs1553561409
rs1553561409
COL6A3
1 1.000 0.120 2 237377222 stop gained G/A snv 0.700 0
dbSNP: rs1559225974
rs1559225974
COL6A3
1 1.000 0.120 2 237359238 inframe deletion CCT/- delins 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: 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: rs761796175
rs761796175
COL6A3
1 1.000 0.120 2 237377336 stop gained G/A snv 4.2E-06 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: rs764193290
rs764193290
COL6A3
3 0.882 0.160 2 237342163 splice acceptor variant T/- del 4.0E-06 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: rs797044988
rs797044988
COL6A3
3 0.882 0.160 2 237359390 splice acceptor variant T/G snv 0.700 0
dbSNP: rs398124126
rs398124126
COL6A3
3 0.882 0.160 2 237361120 splice donor variant C/T snv 0.700 1.000 1 2005 2005
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: 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: rs1230578718
rs1230578718
COL6A3
1 1.000 0.120 2 237380914 splice donor variant C/A snv 7.0E-06 0.700 1.000 3 2005 2010
dbSNP: rs1553553267
rs1553553267
COL6A3
1 1.000 0.120 2 237359235 splice acceptor variant TTCTCCTACTTCGCCCTAAGAGGGAATAAGGCGGACAGGTAAGT/- delins 0.700 1.000 3 2005 2010
dbSNP: rs1559225993
rs1559225993
COL6A3
1 1.000 0.120 2 237359252 splice acceptor variant T/C snv 0.700 1.000 3 2005 2010
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: 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