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: rs1556425835
rs1556425835
COL6A1
1 1.000 0.120 21 45990771 splice acceptor variant A/- del 0.700 1.000 2 2009 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: rs751040647
rs751040647
COL6A1
1 1.000 0.120 21 45999190 missense variant A/C snv 1.1E-04 1.5E-04 0.700 1.000 1 2010 2010
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: rs121912936
rs121912936
COL6A1
1 1.000 0.120 21 45984403 missense variant A/G snv 0.800 1.000 7 1996 2017
dbSNP: rs1556425717
rs1556425717
COL6A1
1 1.000 0.120 21 45990376 splice acceptor variant A/G snv 0.700 1.000 2 2009 2010
dbSNP: rs886044023
rs886044023
COL6A2
1 1.000 0.120 21 46117872 splice acceptor variant A/G snv 0.700 1.000 2 2009 2010
dbSNP: rs749974929
rs749974929
COL6A2
1 1.000 0.120 21 46121554 splice acceptor variant A/G snv 4.0E-06 0.700 0
dbSNP: rs762867111
rs762867111
COL6A1
1 1.000 0.120 21 45987076 splice region variant A/G snv 1.2E-05 5.6E-05 0.700 0
dbSNP: rs752730608
rs752730608
COL6A2
1 1.000 0.120 21 46119812 stop gained A/G;T snv 2.8E-05 0.700 0
dbSNP: rs1569518070
rs1569518070
COL6A1
33 0.752 0.480 21 45989088 inframe deletion AAC/- del 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: rs1556425474
rs1556425474
COL6A1
1 1.000 0.120 21 45989120 inframe deletion AGCCGGAGA/- delins 0.700 0
dbSNP: rs759918870
rs759918870
COL6A1
1 1.000 0.120 21 46002696 splice donor variant ATAGGTGCGCATGGGGCCACCCGGGCAGTCCCAGATCTGC/- delins 7.0E-06 0.700 1.000 2 2009 2010
dbSNP: rs777304794
rs777304794
COL6A3
1 1.000 0.120 2 237366707 frameshift variant C/- delins 4.0E-06 7.0E-06 0.700 1.000 1 2015 2015
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: rs886044398
rs886044398
COL6A2
1 1.000 0.120 21 46124896 frameshift variant C/- delins 0.700 0
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: rs1559234260
rs1559234260
COL6A3
1 1.000 0.120 2 237365697 splice donor variant C/A snv 0.700 1.000 1 2015 2015
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: 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: rs1553553646
rs1553553646
COL6A3
1 1.000 0.120 2 237360140 missense variant C/A;T snv 0.700 1.000 3 1994 2013
dbSNP: rs886043919
rs886043919
COL6A3
2 0.925 0.160 2 237359361 splice donor variant C/A;T snv 0.700 1.000 3 2007 2013
dbSNP: rs751987553
rs751987553
COL6A2
2 0.925 0.120 21 46125301 stop gained C/A;T snv 2.8E-05 0.700 0