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: rs72653170
rs72653170
COL1A1
10 0.752 0.240 17 50188908 missense variant G/A snv 8.0E-06 0.700 1.000 5 2005 2014
dbSNP: rs72659319
rs72659319
COL1A2
9 0.763 0.240 7 94426459 missense variant G/A;C snv 0.700 1.000 10 1993 2016
dbSNP: rs66612022
rs66612022
COL1A2
9 0.763 0.240 7 94409768 missense variant G/A;T snv 0.700 1.000 4 1995 2012
dbSNP: rs72645357
rs72645357
COL1A1
8 0.776 0.240 17 50196163 missense variant C/T snv 0.700 1.000 8 1991 2015
dbSNP: rs67543427
rs67543427
COL1A2
8 0.776 0.240 7 94410457 missense variant G/A;T snv 0.700 1.000 5 1993 2009
dbSNP: rs66490707
rs66490707
COL1A1
7 0.790 0.240 17 50195231 splice donor variant C/G;T snv 0.700 1.000 10 1994 2017
dbSNP: rs66555264
rs66555264
COL1A1
7 0.790 0.240 17 50192993 splice donor variant C/A;T snv 0.700 1.000 8 1993 2015
dbSNP: rs72645347
rs72645347
COL1A1
10 0.790 0.280 17 50196337 missense variant G/A snv 0.700 1.000 5 2000 2017
dbSNP: rs72648326
rs72648326
COL1A1
7 0.790 0.240 17 50195288 stop gained G/A snv 0.700 1.000 5 1996 2016
dbSNP: rs72651642
rs72651642
COL1A1
7 0.790 0.240 17 50191826 stop gained G/A snv 7.0E-06 0.700 1.000 4 1996 2017
dbSNP: rs67879854
rs67879854
COL1A1
7 0.790 0.240 17 50190578 missense variant C/A;T snv 0.700 1.000 2 2007 2016
dbSNP: rs1555574303
rs1555574303
COL1A1
7 0.790 0.240 17 50196172 missense variant C/G snv 0.700 0
dbSNP: rs67682641
rs67682641
COL1A1
6 0.807 0.240 17 50194375 missense variant C/A;T snv 0.700 1.000 7 1992 2016
dbSNP: rs67507747
rs67507747
COL1A1
5 0.827 0.160 17 50194032 missense variant C/A;G;T snv 0.700 1.000 12 1993 2017
dbSNP: rs72651658
rs72651658
COL1A1
5 0.827 0.200 17 50190861 missense variant C/T snv 7.0E-06 0.700 1.000 5 1993 2016
dbSNP: rs67865220
rs67865220
COL1A2
4 0.851 0.120 7 94409795 missense variant G/A;C;T snv 0.700 1.000 16 1993 2017
dbSNP: rs72654802
rs72654802
COL1A1
3 0.882 0.120 17 50188122 missense variant C/T snv 0.710 1.000 14 1992 2017
dbSNP: rs67693970
rs67693970
COL1A1
3 0.882 0.120 17 50190099 missense variant C/G;T snv 0.700 1.000 11 1993 2016
dbSNP: rs72659310
rs72659310
COL1A2
3 0.882 0.120 7 94425664 splice donor variant G/A snv 0.700 1.000 11 1984 2018
dbSNP: rs72658118
rs72658118
COL1A2
3 0.882 0.120 7 94412095 missense variant G/A snv 0.700 1.000 10 1993 2016
dbSNP: rs66619856
rs66619856
COL1A2
3 0.882 0.120 7 94410278 missense variant G/A;T snv 0.700 1.000 9 1993 2018
dbSNP: rs66773001
rs66773001
COL1A2
3 0.882 0.120 7 94410251 missense variant G/A;T snv 0.700 1.000 8 1991 2016
dbSNP: rs72656387
rs72656387
COL1A2
3 0.882 0.120 7 94409367 missense variant G/A snv 8.0E-06 7.0E-06 0.700 1.000 8 1993 2017
dbSNP: rs72656355
rs72656355
COL1A2
3 0.882 0.200 7 94401565 splice acceptor variant A/G snv 0.700 1.000 7 1984 2017
dbSNP: rs67525025
rs67525025
COL1A2
3 0.882 0.120 7 94408798 missense variant G/A;T snv 0.700 1.000 6 1993 2009