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: rs67682641
rs67682641
COL1A1
6 0.807 0.240 17 50194375 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 20 1986 2015
dbSNP: rs72653131
rs72653131
COL1A1
3 0.882 0.120 17 50190045 missense variant C/T snv 0.700 1.000 20 1986 2015
dbSNP: rs72656332
rs72656332
COL1A1
3 0.882 0.120 17 50186895 missense variant C/T snv 0.700 1.000 20 1986 2015
dbSNP: rs72654802
rs72654802
COL1A1
3 0.882 0.120 17 50188122 missense variant C/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: rs66929517
rs66929517
COL1A1
2 0.925 0.120 17 50190334 missense variant C/A;G snv 0.700 1.000 20 1986 2015
dbSNP: rs67771061
rs67771061
COL1A1
2 0.925 0.120 17 50188776 missense variant C/A;G;T snv 0.700 1.000 20 1986 2015
dbSNP: rs72645333
rs72645333
COL1A1
2 0.925 0.120 17 50196651 missense variant C/T snv 0.700 1.000 20 1986 2015
dbSNP: rs72648333
rs72648333
COL1A1
2 0.925 0.120 17 50195099 missense variant C/A snv 0.700 1.000 20 1986 2015
dbSNP: rs72648356
rs72648356
COL1A1
2 0.925 0.120 17 50194365 missense variant C/T snv 0.700 1.000 20 1986 2015
dbSNP: rs72648363
rs72648363
COL1A1
2 0.925 0.120 17 50194005 missense variant C/G snv 0.700 1.000 20 1986 2015
dbSNP: rs72651646
rs72651646
COL1A1
2 0.925 0.120 17 50191462 missense variant C/T snv 0.700 1.000 20 1986 2015
dbSNP: rs72651651
rs72651651
COL1A1
2 0.925 0.120 17 50191408 missense variant C/G;T snv 0.700 1.000 20 1986 2015
dbSNP: rs72651653
rs72651653
COL1A1
2 0.925 0.120 17 50191390 missense variant C/A snv 0.700 1.000 20 1986 2015
dbSNP: rs72651657
rs72651657
COL1A1
2 0.925 0.120 17 50190869 missense variant C/A snv 0.700 1.000 20 1986 2015
dbSNP: rs72653136
rs72653136
COL1A1
2 0.925 0.120 17 50190027 missense variant C/T snv 0.700 1.000 20 1986 2015
dbSNP: rs72653137
rs72653137
COL1A1
2 0.925 0.120 17 50190008 missense variant C/T snv 0.700 1.000 20 1986 2015
dbSNP: rs72653143
rs72653143
COL1A1
2 0.925 0.120 17 50189867 missense variant C/A snv 0.700 1.000 20 1986 2015
dbSNP: rs72653152
rs72653152
COL1A1
2 0.925 0.120 17 50189520 missense variant C/A snv 0.700 1.000 20 1986 2015
dbSNP: rs72653154
rs72653154
COL1A1
2 0.925 0.120 17 50189430 missense variant C/A snv 0.700 1.000 20 1986 2015
dbSNP: rs72653166
rs72653166
COL1A1
2 0.925 0.120 17 50189009 missense variant C/A snv 0.700 1.000 20 1986 2015
dbSNP: rs72653172
rs72653172
COL1A1
2 0.925 0.120 17 50188768 missense variant C/T snv 0.700 1.000 20 1986 2015
dbSNP: rs72653178
rs72653178
COL1A1
2 0.925 0.120 17 50188619 missense variant C/T snv 0.700 1.000 20 1986 2015
dbSNP: rs72656321
rs72656321
COL1A1
2 0.925 0.120 17 50187094 missense variant C/A;T snv 0.700 1.000 20 1986 2015