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: rs1555573484
rs1555573484
COL1A1
1 1.000 0.120 17 50193042 frameshift variant TC/- delins 0.700 0
dbSNP: rs1555573629
rs1555573629
COL1A1
1 1.000 0.120 17 50194007 frameshift variant G/- delins 0.700 0
dbSNP: rs1555573897
rs1555573897
COL1A1
1 1.000 0.120 17 50194800 frameshift variant C/- delins 0.700 0
dbSNP: rs1555574071
rs1555574071
COL1A1
1 1.000 0.120 17 50195284 frameshift variant C/- delins 0.700 0
dbSNP: rs1555574113
rs1555574113
COL1A1
1 1.000 0.120 17 50195431 splice donor variant -/A delins 0.700 0
dbSNP: rs1555574144
rs1555574144
COL1A1
1 1.000 0.120 17 50195601 frameshift variant C/- delins 0.700 0
dbSNP: rs1555574303
rs1555574303
COL1A1
7 0.790 0.240 17 50196172 missense variant C/G snv 0.700 0
dbSNP: rs1555574319
rs1555574319
COL1A1
1 1.000 0.120 17 50196194 frameshift variant -/G delins 0.700 0
dbSNP: rs1555574493
rs1555574493
COL1A1
1 1.000 0.120 17 50197018 missense variant C/G snv 0.700 0
dbSNP: rs1555574496
rs1555574496
COL1A1
1 1.000 0.120 17 50197044 missense variant C/T snv 0.700 0
dbSNP: rs1555574497
rs1555574497
COL1A1
1 1.000 0.120 17 50197044 frameshift variant C/- delins 0.700 0
dbSNP: rs1555574553
rs1555574553
COL1A1
1 1.000 0.120 17 50197198 frameshift variant -/G ins 0.700 0
dbSNP: rs1555574638
rs1555574638
COL1A1
1 1.000 0.120 17 50197750 frameshift variant A/- del 0.700 0
dbSNP: rs1555574641
rs1555574641
COL1A1
1 1.000 0.120 17 50197757 missense variant C/A snv 0.700 0
dbSNP: rs1555574802
rs1555574802
COL1A1
1 1.000 0.120 17 50198185 frameshift variant AC/T delins 0.700 0
dbSNP: rs1555574871
rs1555574871
COL1A1
1 1.000 0.120 17 50198476 frameshift variant -/CATAAGACAGCTGGGGAGC delins 0.700 0
dbSNP: rs1555575086
rs1555575086
COL1A1
1 1.000 0.120 17 50199310 frameshift variant A/- del 0.700 0
dbSNP: rs1555575370
rs1555575370
COL1A1
1 1.000 0.120 17 50199789 stop gained C/A snv 0.700 0
dbSNP: rs1555575857
rs1555575857
COL1A1
1 1.000 0.120 17 50201479 missense variant A/C snv 0.700 0
dbSNP: rs1562900123
rs1562900123
COL1A2
2 0.925 0.120 7 94407890 splice donor variant CAGTAAGT/- del 0.700 0
dbSNP: rs1567752926
rs1567752926
COL1A1
1 1.000 0.120 17 50186813 frameshift variant C/- del 0.700 0
dbSNP: rs1567752998
rs1567752998
COL1A1
1 1.000 0.120 17 50186861 frameshift variant A/- delins 0.700 0
dbSNP: rs1567753046
rs1567753046
COL1A1
1 1.000 0.120 17 50186887 frameshift variant -/G delins 0.700 0
dbSNP: rs1567754277
rs1567754277
COL1A1
1 1.000 0.120 17 50188132 frameshift variant G/- delins 0.700 0
dbSNP: rs1567754589
rs1567754589
COL1A1
1 1.000 0.120 17 50188577 frameshift variant CACCAGGAGCACCAGGAGCACCAGGGGGTCCAGCGGG/- delins 0.700 0