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: rs66523073
rs66523073
COL1A1
2 0.925 0.120 17 50188777 missense variant C/T snv 0.700 0
dbSNP: rs72645320
rs72645320
COL1A1
1 1.000 0.120 17 50197053 missense variant C/T snv 0.700 0
dbSNP: rs72653131
rs72653131
COL1A1
3 0.882 0.120 17 50190045 missense variant C/T snv 0.700 0
dbSNP: rs72654795
rs72654795
COL1A1
2 0.925 0.120 17 50188565 missense variant C/T snv 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: rs72658186
rs72658186
COL1A2
1 1.000 0.120 7 94421045 missense variant G/A snv 0.700 1.000 15 1991 2006
dbSNP: rs72658191
rs72658191
COL1A2
1 1.000 0.120 7 94423011 missense variant G/A snv 0.700 1.000 15 1991 2006
dbSNP: rs1114167414
rs1114167414
COL1A2
2 0.925 0.120 7 94426433 missense variant G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs72658125
rs72658125
COL1A2
1 1.000 0.120 7 94413110 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs267606742
rs267606742
COL1A2
1 1.000 0.120 7 94427628 missense variant G/A snv 0.700 0
dbSNP: rs72648326
rs72648326
COL1A1
7 0.790 0.240 17 50195288 stop gained G/A snv 0.700 0
dbSNP: rs72651642
rs72651642
COL1A1
7 0.790 0.240 17 50191826 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs72653170
rs72653170
COL1A1
10 0.752 0.240 17 50188908 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs72658118
rs72658118
COL1A2
3 0.882 0.120 7 94412095 missense variant G/A 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: rs72658200
rs72658200
COL1A2
1 1.000 0.120 7 94424345 missense variant G/A snv 0.700 0
dbSNP: rs72659304
rs72659304
COL1A2
2 0.925 0.120 7 94425118 missense variant G/A snv 0.700 0
dbSNP: rs72659312
rs72659312
COL1A2
1 1.000 0.120 7 94425759 missense variant G/A snv 0.700 0
dbSNP: rs72659338
rs72659338
COL1A2
1 1.000 0.120 7 94427654 missense variant G/A snv 0.700 0
dbSNP: rs1114167415
rs1114167415
COL1A2
2 0.925 0.120 7 94426514 missense variant G/A;C 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 0
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 15 1991 2006
dbSNP: rs67865220
rs67865220
COL1A2
4 0.851 0.120 7 94409795 missense variant G/A;C;T snv 0.800 0
dbSNP: rs66773001
rs66773001
COL1A2
3 0.882 0.120 7 94410251 missense variant G/A;T snv 0.700 1.000 15 1991 2006
dbSNP: rs67609234
rs67609234
COL1A2
1 1.000 0.120 7 94425832 missense variant G/A;T snv 0.700 1.000 1 2015 2015