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: rs72656353
rs72656353
COL1A1
1 1.000 0.120 17 50185506 missense variant A/G snv 0.700 0
dbSNP: rs72656332
rs72656332
COL1A1
3 0.882 0.120 17 50186895 missense variant C/T snv 0.700 1.000 15 1989 2008
dbSNP: rs72656320
rs72656320
COL1A1
1 1.000 0.120 17 50187095 missense variant C/T snv 0.700 1.000 15 1989 2008
dbSNP: rs1131692320
rs1131692320
COL1A1
1 1.000 0.120 17 50187103 missense variant C/T snv 0.700 0
dbSNP: rs67394386
rs67394386
COL1A1
3 1.000 0.120 17 50188131 missense variant C/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs72654795
rs72654795
COL1A1
2 0.925 0.120 17 50188565 missense variant C/T snv 0.700 0
dbSNP: rs67641695
rs67641695
COL1A1
1 1.000 0.120 17 50188592 missense variant C/T snv 0.700 1.000 15 1989 2008
dbSNP: rs72653178
rs72653178
COL1A1
2 0.925 0.120 17 50188619 missense variant C/T snv 0.800 1.000 16 1989 2015
dbSNP: rs66523073
rs66523073
COL1A1
2 0.925 0.120 17 50188777 missense variant C/T snv 0.700 0
dbSNP: rs72653170
rs72653170
COL1A1
10 0.752 0.240 17 50188908 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs67445413
rs67445413
COL1A1
2 0.925 0.120 17 50189876 missense variant C/A;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 0
dbSNP: rs67693970
rs67693970
COL1A1
3 0.882 0.120 17 50190099 missense variant C/G;T snv 0.700 0
dbSNP: rs67879854
rs67879854
COL1A1
7 0.790 0.240 17 50190578 missense variant C/A;T snv 0.700 0
dbSNP: rs72651658
rs72651658
COL1A1
5 0.827 0.200 17 50190861 missense variant C/T snv 7.0E-06 0.700 1.000 15 1989 2008
dbSNP: rs1114167390
rs1114167390
COL1A1
1 1.000 0.120 17 50191382 splice donor variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs72651645
rs72651645
COL1A1
2 0.925 0.160 17 50191463 missense variant C/T snv 0.800 1.000 16 1989 2015
dbSNP: rs67368147
rs67368147
COL1A1
2 0.925 0.120 17 50191805 missense variant C/A;T snv 0.700 0
dbSNP: rs72651642
rs72651642
COL1A1
7 0.790 0.240 17 50191826 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs1114167388
rs1114167388
COL1A1
1 1.000 0.120 17 50191840 missense variant C/G snv 0.700 1.000 1 2015 2015
dbSNP: rs66555264
rs66555264
COL1A1
7 0.790 0.240 17 50192993 splice donor variant C/A;T snv 0.700 0
dbSNP: rs66527965
rs66527965
COL1A1
31 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0
dbSNP: rs67682641
rs67682641
COL1A1
6 0.807 0.240 17 50194375 missense variant C/A;T snv 0.700 0
dbSNP: rs66490707
rs66490707
COL1A1
7 0.790 0.240 17 50195231 splice donor variant C/G;T snv 0.700 0
dbSNP: rs72648326
rs72648326
COL1A1
7 0.790 0.240 17 50195288 stop gained G/A snv 0.700 0