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: rs112814811
rs112814811
COL6A1
1 1.000 0.120 21 45998397 splice acceptor variant G/A;C snv 0.700 1.000 3 2008 2011
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: 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: rs121434553
rs121434553
COL6A3
1 1.000 0.120 2 237367151 missense variant C/T snv 0.800 0
dbSNP: rs121434555
rs121434555
COL6A3
1 1.000 0.120 2 237367010 missense variant A/C snv 0.800 1.000 1 2010 2010
dbSNP: rs121912934
rs121912934
COL6A1
1 1.000 0.120 21 45998399 missense variant G/A;T snv 4.0E-06 0.700 0
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: rs121912936
rs121912936
COL6A1
1 1.000 0.120 21 45984403 missense variant A/G snv 0.800 1.000 7 1996 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: 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: rs121912940
rs121912940
COL6A2
1 1.000 0.120 21 46115881 missense variant G/A snv 0.800 1.000 5 1996 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: 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: rs1375040481
rs1375040481
COL6A2
1 1.000 0.120 21 46112504 frameshift variant ACGAC/- del 4.1E-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: 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: 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: rs1553553267
rs1553553267
COL6A3
1 1.000 0.120 2 237359235 splice acceptor variant TTCTCCTACTTCGCCCTAAGAGGGAATAAGGCGGACAGGTAAGT/- delins 0.700 1.000 3 2005 2010
dbSNP: rs1553553313
rs1553553313
COL6A3
1 1.000 0.120 2 237359334 splice acceptor variant TTTGTAAAACAAAACCAAGCTTGCATACCTTCTCTCCTGGGAATCCCCGAGAGCCCTAGAAGGCAAGGCGATAGGGGAAGCATTAGCTTTTCCTGCAGGGCTGGTCCCTCGGGCAGAAGAGGCCAAGGGCTGTTCCCCCACTCCACCCCATTTGAATGTTGCAGTGTCTGAAAATGTAATATTAGAGTCCTACCCCTTTGGATTCCTCTCTCACCACCACGTGCGATGTTTTAAAACTAAAACTAGAACTGAATGCTTGGGTGGTCTTGGCTCCCTGGGCCGGCGGGGGTGGACCCCAAAACCCAGGGCAAGGAGCTGACTTTGTAACTTTGCAGCCCTTCCCTTCAGCACCTGCCTTCAAACTTCAGCAAACAGAGAAGCAAGTTCACCAGCCTTCAACCCACCTGCTGTCCTCTCACTCCACTCCCTTCCCTGACTGCTCCCACGGTCCAGGGCCGGGGCCGTGGGCACCAGCCTACCCTCCGCCCTGGCCCATGTTCTCTCCTTGTGAGGGTTTCCTGGCTTCTTCATGTTTCCACAGGAAACTATTTCTCCATTCTCAGGCTCCCCACCAGCTGCAGCCCCTGCTCCTGAACCCACCCTGCTCAGAACTGCCTTCCAATGAGAGGTCACGGGCTGCTGAATGCTGAGGTCAAGAAGCCTGGACCAGCGCCTCCCTCCCTGGCAGCATCTGGAGAAACTGCGAGTCACCTGACCCCTCCCCACGCTAGCAACCCCATCACCCACGCCTCACCTTTACTCCTCTCTGGCCCGGGCAGCCCTGGAAACCTTGAGTGCCGTTCACACCAGGCGGACCACGCTCAC/- del 0.700 0
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: rs1553561409
rs1553561409
COL6A3
1 1.000 0.120 2 237377222 stop gained G/A snv 0.700 0