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: 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: rs1114167409
rs1114167409
COL1A1
1 1.000 0.120 17 50201444 inframe deletion TTGGCC/- delins 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: rs1131692320
rs1131692320
COL1A1
1 1.000 0.120 17 50187103 missense variant C/T snv 0.700 0
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: 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: rs1554396283
rs1554396283
COL1A2
1 1.000 0.120 7 94410926 missense variant G/T snv 0.700 0
dbSNP: rs1555574303
rs1555574303
COL1A1
7 0.790 0.240 17 50196172 missense variant C/G snv 0.700 0
dbSNP: rs1800250
rs1800250
COL1A2
1 1.000 0.120 7 94427801 missense variant A/C snv 0.700 0
dbSNP: rs267606742
rs267606742
COL1A2
1 1.000 0.120 7 94427628 missense variant G/A snv 0.700 0
dbSNP: rs66490707
rs66490707
COL1A1
7 0.790 0.240 17 50195231 splice donor variant C/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: rs66527965
rs66527965
COL1A1
31 0.763 0.240 17 50193038 missense variant C/A;T snv 0.700 0
dbSNP: rs66555264
rs66555264
COL1A1
7 0.790 0.240 17 50192993 splice donor variant C/A;T snv 0.700 0
dbSNP: rs66612022
rs66612022
COL1A2
9 0.763 0.240 7 94409768 missense variant G/A;T snv 0.700 0
dbSNP: rs66619856
rs66619856
COL1A2
3 0.882 0.120 7 94410278 missense variant G/A;T 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: rs67368147
rs67368147
COL1A1
2 0.925 0.120 17 50191805 missense variant C/A;T snv 0.700 0
dbSNP: rs67394386
rs67394386
COL1A1
3 1.000 0.120 17 50188131 missense variant C/A;T snv 0.700 1.000 1 2015 2015