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: 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: 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: rs72654802
rs72654802
COL1A1
3 0.882 0.120 17 50188122 missense variant C/T snv 0.020 1.000 2 2011 2012
dbSNP: rs786201032
rs786201032
IFITM5
4 0.925 0.120 11 299372 missense variant G/A snv 0.020 1.000 2 2016 2018
dbSNP: rs121907917
rs121907917
PAX6
6 0.807 0.240 11 31794079 stop gained G/A snv 0.010 1.000 1 2016 2016
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: rs1229356148
rs1229356148
PLOD2
1 1.000 0.120 3 146072579 missense variant C/A snv 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1260429820
rs1260429820
COL1A1
1 1.000 0.120 17 50187885 frameshift variant A/- del 0.010 1.000 1 2006 2006
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
dbSNP: rs141053928
rs141053928
SEC23A
1 1.000 0.120 14 39055285 missense variant G/A snv 0.010 1.000 1 2019 2019
dbSNP: rs193922139
rs193922139
COL1A1
2 0.925 0.120 17 50195227 splice region variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs66548636
rs66548636
COL1A1
2 0.925 0.120 17 50195469 missense variant C/A;G;T snv 0.010 1.000 1 2002 2002
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: rs66664580
rs66664580
COL1A1
2 0.925 0.120 17 50195967 missense variant C/A;T snv 7.0E-06 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: rs67771061
rs67771061
COL1A1
2 0.925 0.120 17 50188776 missense variant C/A;G;T snv 0.010 1.000 1 1992 1992
dbSNP: rs72645315
rs72645315
COL1A1
2 0.925 0.120 17 50197205 missense variant C/T snv 0.010 1.000 1 1995 1995
dbSNP: rs72645318
rs72645318
COL1A1
3 0.882 0.200 17 50197057 stop gained G/A snv 0.010 1.000 1 2016 2016
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: rs72656338
rs72656338
COL1A1
2 0.925 0.120 17 50186799 missense variant C/T snv 0.010 1.000 1 2011 2011
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: rs72656351
rs72656351
COL1A1
2 1.000 0.120 17 50185576 missense variant C/A;T snv 2.8E-05 0.010 1.000 1 2002 2002