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: rs72659338
rs72659338
COL1A2
1 1.000 0.120 7 94427654 missense variant G/A snv 0.700 0
dbSNP: rs72659345
rs72659345
COL1A2
1 1.000 0.120 7 94430291 frameshift variant ATAA/- delins 0.700 0
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: 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: rs67445413
rs67445413
COL1A1
2 0.925 0.120 17 50189876 missense variant C/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs121912905
rs121912905
COL1A2
2 0.925 0.120 7 94408806 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: rs66523073
rs66523073
COL1A1
2 0.925 0.120 17 50188777 missense variant C/T snv 0.700 0
dbSNP: rs67368147
rs67368147
COL1A1
2 0.925 0.120 17 50191805 missense variant C/A;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: rs72659304
rs72659304
COL1A2
2 0.925 0.120 7 94425118 missense variant G/A snv 0.700 0
dbSNP: rs72667031
rs72667031
COL1A1
2 0.925 0.120 17 50197983 missense variant C/A snv 0.700 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: 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: rs72656332
rs72656332
COL1A1
3 0.882 0.120 17 50186895 missense variant C/T snv 0.700 1.000 15 1989 2008
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: rs66619856
rs66619856
COL1A2
3 0.882 0.120 7 94410278 missense variant G/A;T snv 0.700 0
dbSNP: rs67693970
rs67693970
COL1A1
3 0.882 0.120 17 50190099 missense variant C/G;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: 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