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: rs587779579
rs587779579
COL3A1
1 1.000 0.160 2 188993372 inframe insertion -/ACCCTGCAG delins 0.700 0
dbSNP: rs587779628
rs587779628
COL3A1
1 1.000 0.160 2 188988621 inframe insertion -/ACCTGGGCAAGCTGG delins 0.700 0
dbSNP: rs587779712
rs587779712
COL3A1
1 1.000 0.160 2 189008973 frameshift variant -/AGGG ins 0.700 0
dbSNP: rs587779653
rs587779653
COL3A1
1 1.000 0.160 2 189003038 frameshift variant -/C delins 0.700 0
dbSNP: rs587779524
rs587779524
COL3A1
1 1.000 0.160 2 188988135 splice donor variant -/T delins 0.700 0
dbSNP: rs587779537
rs587779537
COL3A1 ; MIR3606
1 1.000 0.160 2 188996179 splice donor variant -/T delins 0.700 0
dbSNP: rs587779572
rs587779572
COL3A1
1 1.000 0.160 2 189002352 splice donor variant -/T delins 0.700 0
dbSNP: rs587779608
rs587779608
COL3A1
1 1.000 0.160 2 188997175 frameshift variant -/T delins 0.700 0
dbSNP: rs587779455
rs587779455
COL3A1
1 1.000 0.160 2 188990328 frameshift variant A/- del 0.700 0
dbSNP: rs587779647
rs587779647
COL3A1
1 1.000 0.160 2 189010343 frameshift variant A/- del 0.700 0
dbSNP: rs587779453
rs587779453
COL3A1 ; MIR3606
1 1.000 0.160 2 188994597 splice region variant A/C snv 0.700 0
dbSNP: rs587779546
rs587779546
COL3A1
1 1.000 0.160 2 189007883 splice acceptor variant A/C snv 0.700 0
dbSNP: rs587779670
rs587779670
COL3A1
1 1.000 0.160 2 188992877 intron variant A/C;G snv 4.0E-06 0.700 0
dbSNP: rs1559063681
rs1559063681
COL3A1
1 1.000 0.160 2 189010646 splice acceptor variant A/G snv 0.700 1.000 1 2014 2014
dbSNP: rs587779558
rs587779558
COL3A1
1 1.000 0.160 2 189001395 splice acceptor variant A/G snv 0.700 0
dbSNP: rs587779602
rs587779602
COL3A1
1 1.000 0.160 2 188992885 splice acceptor variant A/G snv 0.700 0
dbSNP: rs587779682
rs587779682
COL3A1
1 1.000 0.160 2 189006935 splice acceptor variant A/G snv 0.700 0
dbSNP: rs587779722
rs587779722
COL3A1
1 1.000 0.160 2 188997163 splice acceptor variant A/G snv 0.700 0
dbSNP: rs587779502
rs587779502
COL3A1
1 1.000 0.160 2 189008033 splice acceptor variant A/G;T snv 0.700 0
dbSNP: rs587779575
rs587779575
COL3A1
1 1.000 0.160 2 188997698 splice acceptor variant A/G;T snv 0.700 0
dbSNP: rs587779713
rs587779713
COL3A1
1 1.000 0.160 2 189003065 splice region variant A/G;T snv 0.700 0
dbSNP: rs587779598
rs587779598
COL3A1
1 1.000 0.160 2 188991726 splice region variant A/T snv 0.700 0
dbSNP: rs587779658
rs587779658
COL3A1
1 1.000 0.160 2 189010217 missense variant A/T snv 0.700 0
dbSNP: rs587779462
rs587779462
COL3A1
1 1.000 0.160 2 188997351 frameshift variant AA/- del 0.700 0
dbSNP: rs587779525
rs587779525
COL3A1
1 1.000 0.160 2 188993403 inframe deletion AAAGAGGAGAACCTGGAC/- delins 0.700 0