Gene: COL1A1 ×
Source: INFERRED ×
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: rs1135401953
rs1135401953
COL1A1
1 1.000 0.120 17 50195284 missense variant C/T snv 0.700 0
dbSNP: rs1228746935
rs1228746935
COL1A1
1 1.000 0.120 17 50194813 stop gained G/A;C snv 0.700 0
dbSNP: rs1298621011
rs1298621011
COL1A1
1 1.000 0.120 17 50196483 splice donor variant C/T snv 4.0E-06 0.700 0
dbSNP: rs1555571647
rs1555571647
COL1A1
1 1.000 0.120 17 50185936 stop gained G/A snv 0.700 0
dbSNP: rs1555571849
rs1555571849
COL1A1
1 1.000 0.120 17 50186807 missense variant T/C snv 0.700 0
dbSNP: rs1555571874
rs1555571874
COL1A1
1 1.000 0.120 17 50186913 frameshift variant -/G delins 0.700 0
dbSNP: rs1555571916
rs1555571916
COL1A1
1 1.000 0.120 17 50187051 frameshift variant A/- del 0.700 0
dbSNP: rs1555571942
rs1555571942
COL1A1
1 1.000 0.120 17 50187114 frameshift variant -/G delins 0.700 0
dbSNP: rs1555572013
rs1555572013
COL1A1
1 1.000 0.120 17 50187500 missense variant C/G snv 0.700 0
dbSNP: rs1555572120
rs1555572120
COL1A1
1 1.000 0.120 17 50187959 frameshift variant -/G delins 0.700 0
dbSNP: rs1555572121
rs1555572121
COL1A1
1 1.000 0.120 17 50187960 frameshift variant -/TC delins 0.700 0
dbSNP: rs1555572161
rs1555572161
COL1A1
1 1.000 0.120 17 50188112 frameshift variant C/- delins 0.700 0
dbSNP: rs1555572456
rs1555572456
COL1A1
1 1.000 0.120 17 50189418 frameshift variant GGCCAG/CGCCA delins 0.700 0
dbSNP: rs1555573004
rs1555573004
COL1A1
1 1.000 0.120 17 50191401 frameshift variant T/- del 0.700 0
dbSNP: rs1555573039
rs1555573039
COL1A1
1 1.000 0.120 17 50191479 frameshift variant A/- del 0.700 0
dbSNP: rs1555573313
rs1555573313
COL1A1
1 1.000 0.120 17 50192639 splice donor variant C/T snv 0.700 0
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