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: rs1064793840
rs1064793840
COL6A1
1 1.000 0.120 21 45989094 missense variant G/A snv 0.700 0
dbSNP: rs114284669
rs114284669
COL6A3
1 1.000 0.120 2 237376802 missense variant T/C;G snv 2.1E-04 0.700 0
dbSNP: rs11553519
rs11553519
COL6A1
1 1.000 0.120 21 45984388 missense variant G/A;C snv 4.2E-02; 2.4E-05 0.700 0
dbSNP: rs117725825
rs117725825
COL6A2
1 1.000 0.120 21 46132287 missense variant C/G;T snv 2.5E-03 0.800 0
dbSNP: rs121434553
rs121434553
COL6A3
1 1.000 0.120 2 237367151 missense variant C/T snv 0.800 0
dbSNP: rs121912934
rs121912934
COL6A1
1 1.000 0.120 21 45998399 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs1375040481
rs1375040481
COL6A2
1 1.000 0.120 21 46112504 frameshift variant ACGAC/- del 4.1E-06 0.700 0
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: 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: rs1555873353
rs1555873353
COL6A2
1 1.000 0.120 21 46117387 splice acceptor variant CCTTCTCCTTCAGGGCAAGCTGGGGCGCATCGGACCTCCTGGCT/- del 0.700 0
dbSNP: rs1555873507
rs1555873507
COL6A2
1 1.000 0.120 21 46117873 splice region variant G/- delins 0.700 0
dbSNP: rs1555873508
rs1555873508
COL6A2
1 1.000 0.120 21 46117876 frameshift variant C/- delins 0.700 0
dbSNP: rs1556423728
rs1556423728
COL6A1
1 1.000 0.120 21 45982682 frameshift variant C/- delins 0.700 0
dbSNP: rs1556425467
rs1556425467
COL6A1
1 1.000 0.120 21 45989102 missense variant G/C;T snv 0.700 0
dbSNP: rs1556425474
rs1556425474
COL6A1
1 1.000 0.120 21 45989120 inframe deletion AGCCGGAGA/- delins 0.700 0
dbSNP: rs1556425687
rs1556425687
COL6A1
1 1.000 0.120 21 45990284 splice donor variant GGTGAGCG/- del 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: rs1569517717
rs1569517717
COL6A1
1 1.000 0.120 21 45984470 splice donor variant G/A snv 0.700 0
dbSNP: rs1569518070
rs1569518070
COL6A1
33 0.752 0.480 21 45989088 inframe deletion AAC/- del 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: rs61735828
rs61735828
COL6A2
1 1.000 0.120 21 46121563 missense variant G/A;C snv 1.7E-03 6.1E-03 0.700 0