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: rs1114167364
rs1114167364
COL1A2
1 1.000 0.120 7 94424443 splice region variant G/A snv 0.700 0
dbSNP: rs121912900
rs121912900
COL1A2
1 1.000 0.120 7 94425163 missense variant G/A snv 0.700 0
dbSNP: rs121912901
rs121912901
COL1A2
1 1.000 0.120 7 94413922 missense variant G/A snv 0.700 0
dbSNP: rs121912904
rs121912904
COL1A2
1 1.000 0.120 7 94422967 missense variant G/A snv 0.700 0
dbSNP: rs121912908
rs121912908
COL1A2
1 1.000 0.120 7 94420233 missense variant G/A;C snv 0.700 0
dbSNP: rs121912909
rs121912909
COL1A2
1 1.000 0.120 7 94415245 missense variant G/A snv 0.700 0
dbSNP: rs267606741
rs267606741
COL1A2
1 1.000 0.120 7 94411066 missense variant G/A snv 0.700 0
dbSNP: rs398122835
rs398122835
COL1A1
1 1.000 0.120 17 50185779 frameshift variant G/- del 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: rs72658108
rs72658108
COL1A2
1 1.000 0.120 7 94410907 missense variant G/A snv 0.700 0
dbSNP: rs74315111
rs74315111
COL1A1
1 1.000 0.120 17 50188579 inframe insertion AGCACCAGG/-;AGCACCAGGAGCACCAGG delins 0.700 0
dbSNP: rs121912902
rs121912902
COL1A2
2 0.925 0.120 7 94424363 missense variant G/A snv 0.700 0
dbSNP: rs121912906
rs121912906
COL1A2
2 0.925 0.120 7 94412593 missense variant G/T snv 0.700 0
dbSNP: rs121912910
rs121912910
COL1A2
2 0.925 0.120 7 94413083 missense variant G/A snv 0.700 0
dbSNP: rs397514672
rs397514672
COL1A1
2 1.000 0.120 17 50185866 missense variant G/A snv 0.700 0
dbSNP: rs66929517
rs66929517
COL1A1
2 0.925 0.120 17 50190334 missense variant C/A;G snv 0.700 0
dbSNP: rs72645333
rs72645333
COL1A1
2 0.925 0.120 17 50196651 missense variant C/T snv 0.700 0
dbSNP: rs72648333
rs72648333
COL1A1
2 0.925 0.120 17 50195099 missense variant C/A snv 0.700 0
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: 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