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: rs1114167415
rs1114167415
COL1A2
2 0.925 0.120 7 94426514 missense variant G/A;C snv 0.700 0
dbSNP: rs121912903
rs121912903
COL1A2
1 1.000 7 94417796 missense variant G/T snv 0.700 0
dbSNP: rs121912907
rs121912907
COL1A2
2 0.925 0.120 7 94415263 missense variant G/T snv 0.700 0
dbSNP: rs121912912
rs121912912
COL1A2
1 1.000 7 94410466 missense variant G/A;C snv 0.700 0
dbSNP: rs1555574303
rs1555574303
COL1A1
7 0.790 0.240 17 50196172 missense variant C/G snv 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: rs66501246
rs66501246
COL1A1
2 0.925 0.120 17 50195441 missense 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: rs66612022
rs66612022
COL1A2
9 0.763 0.240 7 94409768 missense variant G/A;T snv 0.700 0
dbSNP: rs67182491
rs67182491
COL1A1
1 1.000 17 50195575 missense variant C/A;T snv 0.700 0
dbSNP: rs67364703
rs67364703
COL1A1
1 1.000 17 50197948 splice donor variant C/G;T snv 0.700 0
dbSNP: rs67525025
rs67525025
COL1A2
3 0.882 0.120 7 94408798 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: rs67682641
rs67682641
COL1A1
6 0.807 0.240 17 50194375 missense variant C/A;T snv 0.700 0
dbSNP: rs67768540
rs67768540
COL1A2
2 0.925 0.120 7 94427663 missense variant G/A;C;T 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: rs68114505
rs68114505
COL1A1
1 1.000 17 50191814 missense variant C/A;T snv 0.700 0
dbSNP: rs72648326
rs72648326
COL1A1
7 0.790 0.240 17 50195288 stop gained G/A snv 0.700 0
dbSNP: rs72651618
rs72651618
COL1A1
1 1.000 17 50192825 inframe deletion GCC/- del 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: rs72654795
rs72654795
COL1A1
2 0.925 0.120 17 50188565 missense variant C/T snv 0.700 0
dbSNP: rs72654796
rs72654796
COL1A1
1 1.000 17 50188556 missense variant C/T snv 0.700 0
dbSNP: rs72656370
rs72656370
COL1A2
3 0.882 0.120 7 94406286 missense variant G/A snv 4.0E-06 0.700 0
dbSNP: rs72656376
rs72656376
COL1A2
1 1.000 7 94407856 missense variant G/C snv 0.700 0