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: rs66721653
rs66721653
COL1A1
1 1.000 17 50195665 missense variant C/A;T snv 0.800 1.000 12 1989 2015
dbSNP: rs72648322
rs72648322
COL1A1
1 1.000 17 50195330 missense variant C/A;T snv 0.800 1.000 12 1989 2015
dbSNP: rs67507747
rs67507747
COL1A1
5 0.827 0.160 17 50194032 missense variant C/A;G;T snv 0.700 1.000 11 1989 2007
dbSNP: rs72645321
rs72645321
COL1A1
2 0.925 0.120 17 50197045 missense variant C/T snv 0.700 1.000 11 1989 2007
dbSNP: rs72645365
rs72645365
COL1A1
2 0.925 0.120 17 50195656 missense variant C/A snv 0.700 1.000 11 1989 2007
dbSNP: rs72648353
rs72648353
COL1A1
1 1.000 17 50194384 missense variant C/A snv 0.700 1.000 11 1989 2007
dbSNP: rs72651636
rs72651636
COL1A1
1 1.000 17 50191868 missense variant C/T snv 0.700 1.000 11 1989 2007
dbSNP: rs72653169
rs72653169
COL1A1
1 1.000 17 50188920 missense variant C/T snv 0.800 1.000 11 1989 2007
dbSNP: rs66883877
rs66883877
COL1A2
3 0.882 0.160 7 94419499 missense variant G/A;C;T snv 4.0E-06 1.4E-05 0.700 1.000 10 1988 2006
dbSNP: rs1054264002
rs1054264002
COL1A2
1 1.000 7 94409582 missense variant G/A snv 0.010 1.000 1 2000 2000
dbSNP: rs1114167402
rs1114167402
COL1A1
2 0.925 0.120 17 50186507 missense variant C/A;T snv 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs1114167403
rs1114167403
COL1A1
1 1.000 17 50185605 missense variant G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs121908672
rs121908672
LRP5
3 0.925 0.080 11 68357802 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs1468702388
rs1468702388
CD177
1 1.000 19 43360403 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs34940368
rs34940368
COL1A1
1 1.000 17 50186425 missense variant G/A;C snv 1.4E-03 0.700 1.000 1 2015 2015
dbSNP: rs66523073
rs66523073
COL1A1
2 0.925 0.120 17 50188777 missense variant C/T snv 0.010 1.000 1 1994 1994
dbSNP: rs67368147
rs67368147
COL1A1
2 0.925 0.120 17 50191805 missense variant C/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs67693970
rs67693970
COL1A1
3 0.882 0.120 17 50190099 missense variant C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs67707918
rs67707918
COL1A2
2 0.925 0.080 7 94410501 missense variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs72645328
rs72645328
COL1A1
3 0.882 0.120 17 50196670 missense variant C/G;T snv 0.010 1.000 1 2000 2000
dbSNP: rs72645357
rs72645357
COL1A1
8 0.776 0.240 17 50196163 missense variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs72651642
rs72651642
COL1A1
7 0.790 0.240 17 50191826 stop gained G/A snv 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs72651661
rs72651661
COL1A1
1 1.000 17 50190825 missense variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs72653131
rs72653131
COL1A1
3 0.882 0.120 17 50190045 missense variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs72656338
rs72656338
COL1A1
2 0.925 0.120 17 50186799 missense variant C/T snv 0.700 1.000 1 2015 2015