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: rs72648356
rs72648356
COL1A1
2 0.925 0.120 17 50194365 missense variant C/T snv 0.700 0
dbSNP: rs72648363
rs72648363
COL1A1
2 0.925 0.120 17 50194005 missense variant C/G 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: rs72651646
rs72651646
COL1A1
2 0.925 0.120 17 50191462 missense variant C/T snv 0.700 0
dbSNP: rs72651651
rs72651651
COL1A1
2 0.925 0.120 17 50191408 missense variant C/G;T snv 0.700 0
dbSNP: rs72651653
rs72651653
COL1A1
2 0.925 0.120 17 50191390 missense variant C/A snv 0.700 0
dbSNP: rs72651657
rs72651657
COL1A1
2 0.925 0.120 17 50190869 missense variant C/A snv 0.700 0
dbSNP: rs72653136
rs72653136
COL1A1
2 0.925 0.120 17 50190027 missense variant C/T snv 0.700 0
dbSNP: rs72653137
rs72653137
COL1A1
2 0.925 0.120 17 50190008 missense variant C/T snv 0.700 0
dbSNP: rs72653143
rs72653143
COL1A1
2 0.925 0.120 17 50189867 missense variant C/A snv 0.700 0
dbSNP: rs72653152
rs72653152
COL1A1
2 0.925 0.120 17 50189520 missense variant C/A snv 0.700 0
dbSNP: rs72653154
rs72653154
COL1A1
2 0.925 0.120 17 50189430 missense variant C/A snv 0.700 0
dbSNP: rs72653166
rs72653166
COL1A1
2 0.925 0.120 17 50189009 missense variant C/A 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: rs72653172
rs72653172
COL1A1
2 0.925 0.120 17 50188768 missense variant C/T snv 0.700 0
dbSNP: rs72654797
rs72654797
COL1A1
1 1.000 0.120 17 50188555 missense variant C/T snv 0.700 0
dbSNP: rs72656303
rs72656303
COL1A1
1 1.000 0.120 17 50188113 missense variant C/A snv 0.700 0
dbSNP: rs72656306
rs72656306
COL1A1
1 1.000 0.120 17 50187974 missense variant C/T snv 0.700 0
dbSNP: rs72656321
rs72656321
COL1A1
2 0.925 0.120 17 50187094 missense variant C/A;T snv 0.700 0
dbSNP: rs72656324
rs72656324
COL1A1
2 0.925 0.120 17 50187050 missense variant C/A snv 0.700 0
dbSNP: rs72656330
rs72656330
COL1A1
2 0.925 0.120 17 50186913 missense variant C/T snv 0.700 0
dbSNP: rs72656332
rs72656332
COL1A1
3 0.882 0.120 17 50186895 missense variant C/T snv 0.700 0
dbSNP: rs72658108
rs72658108
COL1A2
1 1.000 0.120 7 94410907 missense variant G/A snv 0.700 0
dbSNP: rs72659319
rs72659319
COL1A2
9 0.763 0.240 7 94426459 missense variant G/A;C snv 0.700 0
dbSNP: rs74315111
rs74315111
COL1A1
1 1.000 0.120 17 50188579 inframe insertion AGCACCAGG/-;AGCACCAGGAGCACCAGG delins 0.700 0