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: rs72645324
rs72645324
COL1A1
1 1.000 0.120 17 50197026 missense variant C/A snv 0.700 1.000 12 1988 2014
dbSNP: rs72645325
rs72645325
COL1A1
1 1.000 0.120 17 50197017 missense variant C/T snv 0.700 1.000 12 1988 2014
dbSNP: rs72645331
rs72645331
COL1A1
1 1.000 0.120 17 50196661 missense variant C/A snv 0.800 1.000 12 1988 2014
dbSNP: rs72645340
rs72645340
COL1A1
1 1.000 0.120 17 50196528 missense variant C/T snv 0.700 1.000 12 1988 2014
dbSNP: rs72645341
rs72645341
COL1A1
1 1.000 0.120 17 50196525 stop gained C/A;T snv 2.0E-05 1.4E-05 0.800 1.000 12 1988 2014
dbSNP: rs72645353
rs72645353
COL1A1
1 1.000 0.120 17 50196198 missense variant C/A;T snv 0.700 1.000 12 1988 2014
dbSNP: rs72645362
rs72645362
COL1A1
1 1.000 0.120 17 50195934 missense variant C/A;T snv 2.4E-05 0.710 1.000 12 1988 2014
dbSNP: rs72648359
rs72648359
COL1A1
1 1.000 0.120 17 50194134 missense variant G/C snv 0.700 1.000 12 1988 2014
dbSNP: rs72651627
rs72651627
COL1A1
1 1.000 0.120 17 50192519 missense variant C/T snv 0.700 1.000 12 1988 2014
dbSNP: rs72656323
rs72656323
COL1A1
1 1.000 0.120 17 50187076 missense variant C/T snv 0.700 1.000 12 1988 2014
dbSNP: rs72656334
rs72656334
COL1A1
1 1.000 0.120 17 50186871 missense variant C/A snv 0.700 1.000 12 1988 2014
dbSNP: rs72656339
rs72656339
COL1A1
1 1.000 0.120 17 50186797 missense variant A/C snv 0.700 1.000 12 1988 2014
dbSNP: rs1555572640
rs1555572640
COL1A1
1 1.000 0.120 17 50190026 missense variant C/G snv 0.700 1.000 8 1988 2016
dbSNP: rs72645368
rs72645368
COL1A1
1 1.000 0.120 17 50195611 missense variant C/T snv 0.700 1.000 8 1993 2015
dbSNP: rs67163049
rs67163049
COL1A1
1 1.000 0.120 17 50197234 splice acceptor variant C/A;G;T snv 0.700 1.000 7 1994 2016
dbSNP: rs72645366
rs72645366
COL1A1
1 1.000 0.120 17 50195641 stop gained G/A;C snv 4.4E-05 0.700 1.000 7 1998 2015
dbSNP: rs72648337
rs72648337
COL1A1
1 1.000 0.120 17 50194840 intron variant C/T snv 7.0E-06 0.700 1.000 7 1998 2017
dbSNP: rs72667029
rs72667029
COL1A1
1 1.000 0.120 17 50197992 missense variant C/A snv 0.700 1.000 7 1993 2015
dbSNP: rs1328384458
rs1328384458
COL1A1
1 1.000 0.120 17 50194626 missense variant C/T snv 0.700 1.000 5 1993 2009
dbSNP: rs1555574151
rs1555574151
COL1A1
1 1.000 0.120 17 50195619 missense variant C/G snv 0.700 1.000 5 1993 2016
dbSNP: rs1555574177
rs1555574177
COL1A1
1 1.000 0.120 17 50195666 splice acceptor variant C/T snv 0.700 1.000 5 1994 2016
dbSNP: rs1567753329
rs1567753329
COL1A1
1 1.000 0.120 17 50187059 missense variant C/T snv 0.700 1.000 5 1993 2009
dbSNP: rs1567753699
rs1567753699
COL1A1
1 1.000 0.120 17 50187518 missense variant C/T snv 0.700 1.000 5 1993 2009
dbSNP: rs1567763007
rs1567763007
COL1A1
1 1.000 0.120 17 50197749 missense variant C/T snv 0.700 1.000 5 1993 2009
dbSNP: rs67543897
rs67543897
COL1A1
1 1.000 0.120 17 50191491 splice acceptor variant C/G;T snv 0.700 1.000 5 1994 2011