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: rs72656395
rs72656395
COL1A2
1 1.000 7 94409760 missense variant G/A snv 0.700 0
dbSNP: rs72658147
rs72658147
COL1A2
1 1.000 7 94417761 missense variant G/T snv 0.700 0
dbSNP: rs72658176
rs72658176
COL1A2
3 0.882 0.120 7 94420604 missense variant G/A snv 4.1E-06 0.700 0
dbSNP: rs72658177
rs72658177
COL1A2
3 0.882 0.120 7 94420613 missense variant G/T snv 0.700 0
dbSNP: rs72658183
rs72658183
COL1A2
1 1.000 7 94421010 missense variant G/T snv 0.700 0
dbSNP: rs72659304
rs72659304
COL1A2
2 0.925 0.120 7 94425118 missense variant G/A snv 0.700 0
dbSNP: rs74315103
rs74315103
COL1A2
1 1.000 7 94427630 inframe deletion TCCCCCTGG/- delins 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: rs1114167402
rs1114167402
COL1A1
2 0.925 0.120 17 50186507 missense variant C/A;T snv 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs1114167403
rs1114167403
COL1A1
1 1.000 17 50185605 missense variant G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs34940368
rs34940368
COL1A1
1 1.000 17 50186425 missense variant G/A;C snv 1.4E-03 0.700 1.000 1 2015 2015
dbSNP: rs67368147
rs67368147
COL1A1
2 0.925 0.120 17 50191805 missense variant C/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs67693970
rs67693970
COL1A1
3 0.882 0.120 17 50190099 missense variant C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs67707918
rs67707918
COL1A2
2 0.925 0.080 7 94410501 missense variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs72645357
rs72645357
COL1A1
8 0.776 0.240 17 50196163 missense variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs72651642
rs72651642
COL1A1
7 0.790 0.240 17 50191826 stop gained G/A snv 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs72651661
rs72651661
COL1A1
1 1.000 17 50190825 missense variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs72653131
rs72653131
COL1A1
3 0.882 0.120 17 50190045 missense variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs72656338
rs72656338
COL1A1
2 0.925 0.120 17 50186799 missense variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs72656386
rs72656386
COL1A2
1 1.000 7 94409323 missense variant G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs72658119
rs72658119
COL1A2
1 1.000 7 94412585 missense variant G/C snv 0.700 1.000 1 2015 2015
dbSNP: rs72659310
rs72659310
COL1A2
3 0.882 0.120 7 94425664 splice donor variant G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs72659319
rs72659319
COL1A2
9 0.763 0.240 7 94426459 missense variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs72659325
rs72659325
COL1A2
3 0.882 0.120 7 94427008 missense variant G/C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs906553840
rs906553840
COL1A2
3 0.882 0.120 7 94409403 missense variant G/A;C snv 0.700 1.000 1 2015 2015