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: rs1054264002
rs1054264002
COL1A2
1 1.000 7 94409582 missense variant G/A snv 0.010 1.000 1 2000 2000
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: rs1114167415
rs1114167415
COL1A2
2 0.925 0.120 7 94426514 missense variant G/A;C snv 0.700 0
dbSNP: rs121908672
rs121908672
LRP5
3 0.925 0.080 11 68357802 missense variant C/T snv 0.010 1.000 1 2014 2014
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: rs1468702388
rs1468702388
CD177
1 1.000 19 43360403 missense variant T/C snv 0.010 1.000 1 2014 2014
dbSNP: rs1555574303
rs1555574303
COL1A1
7 0.790 0.240 17 50196172 missense variant C/G snv 0.700 0
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: 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: rs66523073
rs66523073
COL1A1
2 0.925 0.120 17 50188777 missense variant C/T snv 0.010 1.000 1 1994 1994
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: rs66721653
rs66721653
COL1A1
1 1.000 17 50195665 missense variant C/A;T snv 0.800 1.000 12 1989 2015
dbSNP: rs66883877
rs66883877
COL1A2
3 0.882 0.160 7 94419499 missense variant G/A;C;T snv 4.0E-06 1.4E-05 0.700 1.000 10 1988 2006
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: rs67368147
rs67368147
COL1A1
2 0.925 0.120 17 50191805 missense variant C/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs67507747
rs67507747
COL1A1
5 0.827 0.160 17 50194032 missense variant C/A;G;T snv 0.700 1.000 11 1989 2007
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