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: rs72656348
rs72656348
COL1A1
1 1.000 0.120 17 50185863 missense variant A/C snv 0.700 0
dbSNP: rs66948146
rs66948146
COL1A1
1 1.000 0.120 17 50186894 missense variant C/A snv 0.700 1.000 20 1986 2015
dbSNP: rs72648328
rs72648328
COL1A1
1 1.000 0.120 17 50195267 missense variant C/A 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: rs72651649
rs72651649
COL1A1
1 1.000 0.120 17 50191417 missense variant C/A 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: 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: rs72653159
rs72653159
COL1A1
1 1.000 0.120 17 50189266 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: rs72653167
rs72653167
COL1A1
1 1.000 0.120 17 50188947 missense variant C/A snv 0.700 1.000 20 1986 2015
dbSNP: rs72656324
rs72656324
COL1A1
2 0.925 0.120 17 50187050 missense variant C/A snv 0.700 1.000 20 1986 2015
dbSNP: rs72656331
rs72656331
COL1A1
2 0.925 0.120 17 50186903 missense variant C/A snv 0.700 1.000 20 1986 2015
dbSNP: rs72656312
rs72656312
COL1A1
1 1.000 0.120 17 50187537 missense variant C/A 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: 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: 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: rs66548636
rs66548636
COL1A1
2 0.925 0.120 17 50195469 missense variant C/A;G;T snv 0.700 0
dbSNP: rs72667007
rs72667007
COL1A1
1 1.000 0.120 17 50201450 missense variant C/A;G;T snv 8.0E-06 0.700 0
dbSNP: rs67067133
rs67067133
COL1A1
1 1.000 0.120 17 50190062 missense variant C/A;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
dbSNP: rs67445413
rs67445413
COL1A1
2 0.925 0.120 17 50189876 missense variant C/A;T snv 0.710 1.000 1 2008 2008
dbSNP: rs67682641
rs67682641
COL1A1
6 0.807 0.240 17 50194375 missense variant C/A;T snv 0.700 0