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: rs1114167407
rs1114167407
COL1A1
1 1.000 0.120 17 50199238 frameshift variant -/G delins 8.6E-05 0.700 1.000 1 2015 2015
dbSNP: rs1114167408
rs1114167408
COL1A1
1 1.000 0.120 17 50198186 missense variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs1114167410
rs1114167410
COL1A1
1 1.000 0.120 17 50197062 missense variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs1114167411
rs1114167411
COL1A1
1 1.000 0.120 17 50196178 stop gained -/ACCATCA delins 0.700 1.000 1 2015 2015
dbSNP: rs111594467
rs111594467
COL1A1
1 1.000 0.120 17 50189276 splice acceptor variant C/A;T snv 0.700 1.000 3 1994 1998
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: rs1328384458
rs1328384458
COL1A1
1 1.000 0.120 17 50194626 missense variant C/T snv 0.700 1.000 5 1993 2009
dbSNP: rs1555571529
rs1555571529
COL1A1
1 1.000 0.120 17 50185569 frameshift variant -/CCACATC delins 0.700 1.000 1 1990 1990
dbSNP: rs1555571647
rs1555571647
COL1A1
1 1.000 0.120 17 50185936 stop gained G/A snv 0.700 0
dbSNP: rs1555571755
rs1555571755
COL1A1
1 1.000 0.120 17 50186429 missense variant G/T snv 0.700 1.000 1 2014 2014
dbSNP: rs1555571766
rs1555571766
COL1A1
1 1.000 0.120 17 50186497 stop gained C/T snv 0.700 1.000 1 2016 2016
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: rs1555572239
rs1555572239
COL1A1
1 1.000 0.120 17 50188529 splice donor variant C/G;T snv 0.700 1.000 4 1994 2012
dbSNP: rs1555572401
rs1555572401
COL1A1
1 1.000 0.120 17 50189194 frameshift variant TCTC/- delins 0.700 1.000 1 1989 1989
dbSNP: rs1555572456
rs1555572456
COL1A1
1 1.000 0.120 17 50189418 frameshift variant GGCCAG/CGCCA delins 0.700 0
dbSNP: rs1555572640
rs1555572640
COL1A1
1 1.000 0.120 17 50190026 missense variant C/G snv 0.700 1.000 8 1988 2016