Gene: COL1A1 ×
Source: INFERRED ×
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: rs72654802
rs72654802
COL1A1
1 0.882 0.120 17 50188122 missense variant C/T snv 0.710 1.000 14 1992 2017
dbSNP: rs67507747
rs67507747
COL1A1
2 0.827 0.160 17 50194032 missense variant C/A;G;T snv 0.700 1.000 12 1993 2017
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: 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: rs67815019
rs67815019
COL1A1
2 0.925 0.120 17 50187041 missense variant C/A;T snv 0.700 1.000 6 2007 2017
dbSNP: rs72645347
rs72645347
COL1A1
5 0.790 0.280 17 50196337 missense variant G/A snv 0.700 1.000 5 2000 2017
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: rs72645370
rs72645370
COL1A1
1 1.000 0.120 17 50195594 frameshift variant A/- del 0.700 1.000 3 1996 2017
dbSNP: rs67693970
rs67693970
COL1A1
2 0.882 0.120 17 50190099 missense variant C/G;T snv 0.700 1.000 11 1993 2016
dbSNP: rs1555572640
rs1555572640
COL1A1
1 1.000 0.120 17 50190026 missense variant C/G snv 0.700 1.000 8 1988 2016
dbSNP: rs67163049
rs67163049
COL1A1
1 1.000 0.120 17 50197234 splice acceptor variant C/A;G;T snv 0.700 1.000 7 1994 2016
dbSNP: rs67682641
rs67682641
COL1A1
2 0.807 0.240 17 50194375 missense variant C/A;T snv 0.700 1.000 7 1992 2016
dbSNP: rs1555574151
rs1555574151
COL1A1
1 1.000 0.120 17 50195619 missense variant C/G snv 0.700 1.000 5 1993 2016
dbSNP: rs1555574177
rs1555574177
COL1A1
1 1.000 0.120 17 50195666 splice acceptor variant C/T snv 0.700 1.000 5 1994 2016
dbSNP: rs72648326
rs72648326
COL1A1
7 0.790 0.240 17 50195288 stop gained G/A snv 0.700 1.000 5 1996 2016
dbSNP: rs72651658
rs72651658
COL1A1
1 0.827 0.200 17 50190861 missense variant C/T snv 7.0E-06 0.700 1.000 5 1993 2016
dbSNP: rs72653140
rs72653140
COL1A1
1 1.000 0.120 17 50189912 missense variant C/G;T snv 0.700 1.000 5 1993 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
1 0.882 0.200 17 50197057 stop gained G/A snv 0.700 1.000 4 2004 2016
dbSNP: rs1555575889
rs1555575889
COL1A1
1 1.000 0.120 17 50201513 start lost T/C snv 0.700 1.000 3 2013 2016
dbSNP: rs1567764387
rs1567764387
COL1A1
1 1.000 0.120 17 50199462 non coding transcript exon variant T/C snv 0.700 1.000 3 2011 2016
dbSNP: rs1567766329
rs1567766329
COL1A1
1 1.000 0.120 17 50201511 start lost C/T snv 0.700 1.000 3 2013 2016
dbSNP: rs1567766338
rs1567766338
COL1A1
1 1.000 0.120 17 50201512 start lost A/G snv 0.700 1.000 3 2013 2016
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: rs762428889
rs762428889
COL1A1
1 1.000 0.120 17 50194777 stop gained G/A;T snv 0.700 1.000 2 2009 2016