Source: CLINVAR ×
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: rs66721653
rs66721653
COL1A1
1 1.000 17 50195665 missense variant C/A;T snv 0.800 1.000 1 1989 2015
dbSNP: rs72648322
rs72648322
COL1A1
1 1.000 17 50195330 missense variant C/A;T snv 0.800 1.000 1 1989 2015
dbSNP: rs72653169
rs72653169
COL1A1
1 1.000 17 50188920 missense variant C/T snv 0.800 1.000 0 1989 2007
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
2 0.882 0.120 17 50190099 missense variant C/G;T snv 0.700 1.000 1 2015 2015
dbSNP: rs67707918
rs67707918
COL1A2
1 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
2 0.882 0.120 17 50190045 missense variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs72656338
rs72656338
COL1A1
1 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
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