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: rs72648337
rs72648337
COL1A1
1 1.000 0.120 17 50194840 intron variant C/T snv 7.0E-06 0.700 1.000 7 1998 2017
dbSNP: rs72645341
rs72645341
COL1A1
1 1.000 0.120 17 50196525 stop gained C/A;T snv 2.0E-05 1.4E-05 0.800 1.000 12 1988 2014
dbSNP: rs72645366
rs72645366
COL1A1
1 1.000 0.120 17 50195641 stop gained G/A;C snv 4.4E-05 0.700 1.000 7 1998 2015
dbSNP: rs72648326
rs72648326
COL1A1
7 0.790 0.240 17 50195288 stop gained G/A snv 0.700 1.000 5 1996 2016
dbSNP: rs72653147
rs72653147
COL1A1
1 1.000 0.120 17 50189702 stop gained G/A;C;T snv 4.0E-06; 4.0E-06 0.700 1.000 5 2004 2016
dbSNP: rs72645318
rs72645318
COL1A1
3 0.882 0.200 17 50197057 stop gained G/A snv 0.700 1.000 4 2004 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: rs72648343
rs72648343
COL1A1
1 1.000 0.120 17 50194768 stop gained G/A;T snv 0.700 1.000 2 2006 2012
dbSNP: rs762428889
rs762428889
COL1A1
1 1.000 0.120 17 50194777 stop gained G/A;T snv 0.700 1.000 2 2009 2016
dbSNP: rs1114167399
rs1114167399
COL1A1
1 1.000 0.120 17 50186847 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1114167411
rs1114167411
COL1A1
1 1.000 0.120 17 50196178 stop gained -/ACCATCA delins 0.700 1.000 1 2015 2015
dbSNP: rs1555571766
rs1555571766
COL1A1
1 1.000 0.120 17 50186497 stop gained C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1555574158
rs1555574158
COL1A1
1 1.000 0.120 17 50195623 stop gained G/A snv 0.700 1.000 1 2013 2013
dbSNP: rs72651614
rs72651614
COL1A1
1 1.000 0.120 17 50193023 stop gained G/A;C snv 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs72667036
rs72667036
COL1A1
2 0.925 0.200 17 50197770 stop gained G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1228746935
rs1228746935
COL1A1
1 1.000 0.120 17 50194813 stop gained G/A;C snv 0.700 0
dbSNP: rs1555571647
rs1555571647
COL1A1
1 1.000 0.120 17 50185936 stop gained G/A snv 0.700 0
dbSNP: rs1555575370
rs1555575370
COL1A1
1 1.000 0.120 17 50199789 stop gained C/A snv 0.700 0
dbSNP: rs1567759402
rs1567759402
COL1A1
1 1.000 0.120 17 50194144 stop gained T/A snv 0.700 0
dbSNP: rs1567762257
rs1567762257
COL1A1
1 1.000 0.120 17 50197012 stop gained T/A snv 0.700 0
dbSNP: rs72653173
rs72653173
COL1A1
2 0.925 0.120 17 50188765 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs72656314
rs72656314
COL1A1
2 0.925 0.120 17 50187486 stop gained G/A;T snv 0.700 0
dbSNP: rs72656343
rs72656343
COL1A1
3 0.882 0.120 17 50186386 stop gained C/A;T snv 0.700 0
dbSNP: rs753683126
rs753683126
COL1A1
1 1.000 0.120 17 50199822 stop gained C/A;T snv 2.8E-05 0.700 0
dbSNP: rs865999256
rs865999256
COL1A1
1 1.000 0.120 17 50194789 stop gained C/A snv 0.700 0