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: rs57377812
rs57377812
COL1A1
1 1.000 0.120 17 50194756 missense variant C/G;T snv 0.700 1.000 20 1986 2015
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: rs66948146
rs66948146
COL1A1
1 1.000 0.120 17 50186894 missense variant C/A snv 0.700 1.000 20 1986 2015
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: 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: rs72645333
rs72645333
COL1A1
2 0.925 0.120 17 50196651 missense variant C/T 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: rs72648330
rs72648330
COL1A1
1 1.000 0.120 17 50195258 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: rs72648366
rs72648366
COL1A1
1 1.000 0.120 17 50193969 missense variant C/T snv 0.700 1.000 20 1986 2015
dbSNP: rs72651615
rs72651615
COL1A1
1 1.000 0.120 17 50193011 missense variant C/T snv 0.700 1.000 20 1986 2015
dbSNP: rs72651629
rs72651629
COL1A1
1 1.000 0.120 17 50192492 missense variant C/T 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: rs72651648
rs72651648
COL1A1
1 1.000 0.120 17 50191436 missense variant C/T 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: rs72651651
rs72651651
COL1A1
2 0.925 0.120 17 50191408 missense variant C/G;T snv 0.700 1.000 20 1986 2015
dbSNP: rs72651652
rs72651652
COL1A1
1 1.000 0.120 17 50191391 missense variant C/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: rs72651660
rs72651660
COL1A1
1 1.000 0.120 17 50190834 missense variant C/T snv 0.700 1.000 20 1986 2015
dbSNP: rs72651663
rs72651663
COL1A1
1 1.000 0.120 17 50190353 missense variant C/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