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: rs1468702388
rs1468702388
CD177
1 1.000 19 43360403 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs1114167403
rs1114167403
COL1A1
1 1.000 17 50185605 missense variant G/A snv 0.700 1.000 1 2015 2015
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: 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: rs72656338
rs72656338
COL1A1
2 0.925 0.120 17 50186799 missense variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs72654796
rs72654796
COL1A1
1 1.000 17 50188556 missense variant C/T snv 0.700 0
dbSNP: rs72654795
rs72654795
COL1A1
2 0.925 0.120 17 50188565 missense variant C/T snv 0.700 0
dbSNP: rs66523073
rs66523073
COL1A1
2 0.925 0.120 17 50188777 missense variant C/T snv 0.010 1.000 1 1994 1994
dbSNP: rs72653170
rs72653170
COL1A1
10 0.752 0.240 17 50188908 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs72653169
rs72653169
COL1A1
1 1.000 17 50188920 missense variant C/T snv 0.800 1.000 11 1989 2007
dbSNP: rs72653131
rs72653131
COL1A1
3 0.882 0.120 17 50190045 missense variant C/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: rs67879854
rs67879854
COL1A1
7 0.790 0.240 17 50190578 missense variant C/A;T snv 0.700 0
dbSNP: rs72651661
rs72651661
COL1A1
1 1.000 17 50190825 missense variant C/T snv 0.700 1.000 1 2015 2015
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: rs68114505
rs68114505
COL1A1
1 1.000 17 50191814 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 1.000 1 2015 2015
dbSNP: rs72651636
rs72651636
COL1A1
1 1.000 17 50191868 missense variant C/T snv 0.700 1.000 11 1989 2007
dbSNP: rs72651618
rs72651618
COL1A1
1 1.000 17 50192825 inframe deletion GCC/- del 0.700 0
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: 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: rs67682641
rs67682641
COL1A1
6 0.807 0.240 17 50194375 missense variant C/A;T snv 0.700 0
dbSNP: rs72648353
rs72648353
COL1A1
1 1.000 17 50194384 missense variant C/A snv 0.700 1.000 11 1989 2007
dbSNP: rs66490707
rs66490707
COL1A1
7 0.790 0.240 17 50195231 splice donor variant C/G;T snv 0.700 0