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: rs72651645
rs72651645
COL1A1
2 0.925 0.160 17 50191463 missense variant C/T snv 0.800 1.000 16 1989 2015
dbSNP: rs72653178
rs72653178
COL1A1
2 0.925 0.120 17 50188619 missense variant C/T snv 0.800 1.000 16 1989 2015
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: 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: rs67641695
rs67641695
COL1A1
1 1.000 0.120 17 50188592 missense variant C/T snv 0.700 1.000 15 1989 2008
dbSNP: rs72645357
rs72645357
COL1A1
8 0.776 0.240 17 50196163 missense variant C/T snv 0.800 1.000 15 1989 2008
dbSNP: rs72645363
rs72645363
COL1A1
1 1.000 0.120 17 50195931 missense variant C/G snv 0.700 1.000 15 1989 2008
dbSNP: rs72651658
rs72651658
COL1A1
5 0.827 0.200 17 50190861 missense variant C/T snv 7.0E-06 0.700 1.000 15 1989 2008
dbSNP: rs72656320
rs72656320
COL1A1
1 1.000 0.120 17 50187095 missense variant C/T snv 0.700 1.000 15 1989 2008
dbSNP: rs72656332
rs72656332
COL1A1
3 0.882 0.120 17 50186895 missense variant C/T snv 0.700 1.000 15 1989 2008
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: rs1114167388
rs1114167388
COL1A1
1 1.000 0.120 17 50191840 missense variant C/G snv 0.700 1.000 1 2015 2015
dbSNP: rs1114167390
rs1114167390
COL1A1
1 1.000 0.120 17 50191382 splice donor variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs1114167412
rs1114167412
COL1A2
1 1.000 0.120 7 94410492 missense variant G/C snv 0.700 1.000 1 2015 2015
dbSNP: rs1114167414
rs1114167414
COL1A2
2 0.925 0.120 7 94426433 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 1.000 1 2015 2015
dbSNP: rs121912911
rs121912911
COL1A2
2 0.925 0.200 7 94426442 missense variant G/C snv 0.710 1.000 1 1996 1996
dbSNP: rs1554200371
rs1554200371
TENT5A
2 0.925 0.120 6 81750332 missense variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs67394386
rs67394386
COL1A1
3 1.000 0.120 17 50188131 missense variant C/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs67445413
rs67445413
COL1A1
2 0.925 0.120 17 50189876 missense variant C/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs67609234
rs67609234
COL1A2
1 1.000 0.120 7 94425832 missense variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs67729041
rs67729041
COL1A2
1 1.000 0.120 7 94409778 missense variant G/A;T 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: rs72658150
rs72658150
COL1A2
1 1.000 0.120 7 94417797 missense variant G/T snv 0.700 1.000 1 2015 2015