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: rs66612022
rs66612022
COL1A2
9 0.763 0.240 7 94409768 missense variant G/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs72659319
rs72659319
COL1A2
9 0.763 0.240 7 94426459 missense variant G/A;C snv 0.700 0
dbSNP: rs72645357
rs72645357
COL1A1
8 0.776 0.240 17 50196163 missense variant C/T snv 0.700 0
dbSNP: rs121907917
rs121907917
PAX6
6 0.807 0.240 11 31794079 stop gained G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs67507747
rs67507747
COL1A1
5 0.827 0.160 17 50194032 missense variant C/A;G;T snv 0.710 1.000 1 2001 2001
dbSNP: rs72651658
rs72651658
COL1A1
5 0.827 0.200 17 50190861 missense variant C/T snv 7.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs67865220
rs67865220
COL1A2
4 0.851 0.120 7 94409795 missense variant G/A;C;T snv 0.020 1.000 2 2016 2017
dbSNP: rs1555222973
rs1555222973
CREB3L1
6 0.851 0.160 11 46312636 inframe deletion AAG/- delins 0.700 0
dbSNP: rs72654802
rs72654802
COL1A1
3 0.882 0.120 17 50188122 missense variant C/T snv 0.020 1.000 2 2011 2012
dbSNP: rs72645318
rs72645318
COL1A1
3 0.882 0.200 17 50197057 stop gained G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs72654799
rs72654799
COL1A1
3 0.882 0.200 17 50188541 missense variant G/A;C snv 6.4E-05 0.010 1.000 1 2007 2007
dbSNP: rs72656343
rs72656343
COL1A1
3 0.882 0.120 17 50186386 stop gained C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs72656392
rs72656392
COL1A2
3 0.882 0.120 7 94409732 missense variant G/A;C snv 0.010 1.000 1 1994 1994
dbSNP: rs72658176
rs72658176
COL1A2
3 0.882 0.120 7 94420604 missense variant G/A snv 4.1E-06 0.010 1.000 1 1997 1997
dbSNP: rs72645328
rs72645328
COL1A1
3 0.882 0.120 17 50196670 missense variant C/G;T snv 0.700 0
dbSNP: rs72656387
rs72656387
COL1A2
3 0.882 0.120 7 94409367 missense variant G/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs121912905
rs121912905
COL1A2
2 0.925 0.120 7 94408806 missense variant G/T snv 0.020 1.000 2 1991 1992
dbSNP: rs67815019
rs67815019
COL1A1
2 0.925 0.120 17 50187041 missense variant C/A;T snv 0.700 1.000 2 2007 2016
dbSNP: rs786201032
rs786201032
IFITM5
4 0.925 0.120 11 299372 missense variant G/A snv 0.020 1.000 2 2016 2018
dbSNP: rs1187611948
rs1187611948
TENT5A
2 0.925 0.120 6 81751762 missense variant T/C snv 4.1E-06 0.010 1.000 1 2018 2018
dbSNP: rs121912906
rs121912906
COL1A2
2 0.925 0.120 7 94412593 missense variant G/T snv 0.010 1.000 1 1991 1991
dbSNP: rs121912910
rs121912910
COL1A2
2 0.925 0.120 7 94413083 missense variant G/A snv 0.010 1.000 1 1994 1994
dbSNP: rs121918126
rs121918126
SLC6A2
5 0.925 0.160 16 55698005 missense variant G/A;C;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs1277989297
rs1277989297
FN1
2 0.925 0.200 2 215428270 stop gained G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs137853892
rs137853892
SERPINH1
2 0.925 0.120 11 75566582 missense variant T/C snv 0.010 1.000 1 2010 2010