Gene: COL1A1 ×
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: rs66501246
rs66501246
COL1A1
2 0.925 0.120 17 50195441 missense variant C/G;T snv 0.700 0
dbSNP: rs66548636
rs66548636
COL1A1
2 0.925 0.120 17 50195469 missense variant C/A;G;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: rs72654802
rs72654802
COL1A1
3 0.882 0.120 17 50188122 missense variant C/T snv 0.700 0
dbSNP: rs72656305
rs72656305
COL1A1
1 1.000 0.120 17 50187982 missense variant C/G snv 0.700 0
dbSNP: rs72656308
rs72656308
COL1A1
1 1.000 0.120 17 50187946 missense variant C/T snv 0.700 0
dbSNP: rs72656311
rs72656311
COL1A1
1 1.000 0.120 17 50187928 missense variant C/G snv 0.700 0
dbSNP: rs72656312
rs72656312
COL1A1
1 1.000 0.120 17 50187537 missense variant C/A snv 0.700 0
dbSNP: rs72656317
rs72656317
COL1A1
1 1.000 0.120 17 50187122 missense variant C/T snv 0.700 0
dbSNP: rs72656342
rs72656342
COL1A1
1 1.000 0.120 17 50186493 missense variant C/G snv 0.700 0
dbSNP: rs72656343
rs72656343
COL1A1
3 0.882 0.120 17 50186386 stop gained C/A;T snv 0.700 0
dbSNP: rs72656348
rs72656348
COL1A1
1 1.000 0.120 17 50185863 missense variant A/C snv 0.700 0
dbSNP: rs72656349
rs72656349
COL1A1
1 1.000 0.120 17 50185789 missense variant C/T snv 0.700 0
dbSNP: rs72667007
rs72667007
COL1A1
1 1.000 0.120 17 50201450 missense variant C/A;G;T snv 8.0E-06 0.700 0
dbSNP: rs67445413
rs67445413
COL1A1
2 0.925 0.120 17 50189876 missense variant C/A;T snv 0.710 1.000 1 2008 2008
dbSNP: rs72645315
rs72645315
COL1A1
2 0.925 0.120 17 50197205 missense variant C/T snv 0.010 1.000 1 1995 1995
dbSNP: rs116794104
rs116794104
COL1A1
1 1.000 0.120 17 50195466 missense variant C/T snv 1.0E-03 4.2E-03 0.700 1.000 20 1986 2015
dbSNP: rs57377812
rs57377812
COL1A1
1 1.000 0.120 17 50194756 missense variant C/G;T snv 0.700 1.000 20 1986 2015
dbSNP: rs66929517
rs66929517
COL1A1
2 0.925 0.120 17 50190334 missense variant C/A;G snv 0.700 1.000 20 1986 2015
dbSNP: rs66948146
rs66948146
COL1A1
1 1.000 0.120 17 50186894 missense variant C/A snv 0.700 1.000 20 1986 2015
dbSNP: rs67067133
rs67067133
COL1A1
1 1.000 0.120 17 50190062 missense variant C/A;T snv 0.700 1.000 20 1986 2015
dbSNP: rs67507747
rs67507747
COL1A1
5 0.827 0.160 17 50194032 missense variant C/A;G;T snv 0.700 1.000 20 1986 2015
dbSNP: rs67771061
rs67771061
COL1A1
2 0.925 0.120 17 50188776 missense variant C/A;G;T snv 0.700 1.000 20 1986 2015
dbSNP: rs72645333
rs72645333
COL1A1
2 0.925 0.120 17 50196651 missense variant C/T snv 0.700 1.000 20 1986 2015
dbSNP: rs72648328
rs72648328
COL1A1
1 1.000 0.120 17 50195267 missense variant C/A snv 0.700 1.000 20 1986 2015