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: rs318240762
rs318240762
BMP1
2 0.925 0.120 8 22165439 missense variant G/C snv 1.1E-05 7.0E-06 0.010 1.000 1 2014 2014
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: rs72654802
rs72654802
COL1A1
3 0.882 0.120 17 50188122 missense variant C/T snv 0.020 1.000 2 2011 2012
dbSNP: rs1260429820
rs1260429820
COL1A1
1 1.000 0.120 17 50187885 frameshift variant A/- del 0.010 1.000 1 2006 2006
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: 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: 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: 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
dbSNP: rs886440452
rs886440452
COL1A1
2 0.925 0.200 17 50189478 missense variant G/A snv 4.0E-06 2.8E-05 0.010 1.000 1 2007 2007
dbSNP: rs144751329
rs144751329
COL1A1
1 1.000 0.120 17 50194380 missense variant C/A;T snv 4.0E-06; 2.0E-04 0.700 0
dbSNP: rs1555572125
rs1555572125
COL1A1
1 1.000 0.120 17 50187975 frameshift variant T/- delins 0.700 0
dbSNP: rs1555572406
rs1555572406
COL1A1
1 1.000 0.120 17 50189203 frameshift variant CT/- delins 0.700 0
dbSNP: rs1567751388
rs1567751388
COL1A1
1 1.000 0.120 17 50185558 frameshift variant C/- del 0.700 0
dbSNP: rs1567753448
rs1567753448
COL1A1
1 1.000 0.120 17 50187121 missense variant C/A snv 0.700 0
dbSNP: rs1567761800
rs1567761800
COL1A1
1 1.000 0.120 17 50196500 missense variant C/G snv 0.700 0
dbSNP: rs1567762262
rs1567762262
COL1A1
1 1.000 0.120 17 50197012 frameshift variant GT/- delins 0.700 0
dbSNP: rs193922137
rs193922137
COL1A1
1 1.000 0.120 17 50195958 missense variant C/A snv 0.700 0