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: rs1057516036
rs1057516036
COL1A2
4 0.925 0.160 7 94423065 missense variant G/A snv 0.700 1.000 1 2016 2016
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: rs121912902
rs121912902
COL1A2
2 0.925 0.120 7 94424363 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: rs121912906
rs121912906
COL1A2
2 0.925 0.120 7 94412593 missense variant G/T 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: rs121912910
rs121912910
COL1A2
2 0.925 0.120 7 94413083 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: rs66612022
rs66612022
COL1A2
9 0.763 0.240 7 94409768 missense variant G/A;T snv 0.700 0
dbSNP: rs67543427
rs67543427
COL1A2
8 0.776 0.240 7 94410457 missense variant G/A;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: rs768171831
rs768171831
COL1A2
3 0.882 0.120 7 94426011 missense variant C/T snv 1.2E-04; 4.0E-06 5.6E-05 0.700 0
dbSNP: rs1555574303
rs1555574303
COL1A1
7 0.790 0.240 17 50196172 missense variant C/G snv 0.700 0
dbSNP: rs397514672
rs397514672
COL1A1
2 1.000 0.120 17 50185866 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: rs66490707
rs66490707
COL1A1
7 0.790 0.240 17 50195231 splice donor variant C/G;T snv 0.700 0
dbSNP: rs66527965
rs66527965
COL1A1
31 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0
dbSNP: rs66555264
rs66555264
COL1A1
7 0.790 0.240 17 50192993 splice donor variant 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 0
dbSNP: rs67879854
rs67879854
COL1A1
7 0.790 0.240 17 50190578 missense variant C/A;T snv 0.700 0
dbSNP: rs72645333
rs72645333
COL1A1
2 0.925 0.120 17 50196651 missense variant C/T snv 0.700 0