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: rs1555574113
rs1555574113
COL1A1
1 1.000 0.120 17 50195431 splice donor variant -/A delins 0.700 0
dbSNP: rs1114167411
rs1114167411
COL1A1
1 1.000 0.120 17 50196178 stop gained -/ACCATCA delins 0.700 1.000 1 2015 2015
dbSNP: rs1555574871
rs1555574871
COL1A1
1 1.000 0.120 17 50198476 frameshift variant -/CATAAGACAGCTGGGGAGC delins 0.700 0
dbSNP: rs1555571529
rs1555571529
COL1A1
1 1.000 0.120 17 50185569 frameshift variant -/CCACATC delins 0.700 1.000 1 1990 1990
dbSNP: rs1567756357
rs1567756357
COL1A1
1 1.000 0.120 17 50190353 frameshift variant -/CG ins 0.700 0
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: rs1555571874
rs1555571874
COL1A1
1 1.000 0.120 17 50186913 frameshift variant -/G delins 0.700 0
dbSNP: rs1555571942
rs1555571942
COL1A1
1 1.000 0.120 17 50187114 frameshift variant -/G delins 0.700 0
dbSNP: rs1555572120
rs1555572120
COL1A1
1 1.000 0.120 17 50187959 frameshift variant -/G delins 0.700 0
dbSNP: rs1555574319
rs1555574319
COL1A1
1 1.000 0.120 17 50196194 frameshift variant -/G delins 0.700 0
dbSNP: rs1555574553
rs1555574553
COL1A1
1 1.000 0.120 17 50197198 frameshift variant -/G ins 0.700 0
dbSNP: rs1567753046
rs1567753046
COL1A1
1 1.000 0.120 17 50186887 frameshift variant -/G delins 0.700 0
dbSNP: rs1114167405
rs1114167405
COL1A1
1 1.000 0.120 17 50185564 frameshift variant -/G;GGGG delins 0.700 1.000 2 1990 2015
dbSNP: rs1114167400
rs1114167400
COL1A1
1 1.000 0.120 17 50186701 frameshift variant -/GCCCT delins 0.700 1.000 1 2015 2015
dbSNP: rs1567764832
rs1567764832
COL1A1
1 1.000 0.120 17 50199838 frameshift variant -/T delins 0.700 0
dbSNP: rs1555572121
rs1555572121
COL1A1
1 1.000 0.120 17 50187960 frameshift variant -/TC delins 0.700 0
dbSNP: rs72645370
rs72645370
COL1A1
1 1.000 0.120 17 50195594 frameshift variant A/- del 0.700 1.000 3 1996 2017
dbSNP: rs1114167380
rs1114167380
COL1A1
1 1.000 0.120 17 50190010 frameshift variant A/- del 0.700 1.000 1 2015 2015
dbSNP: rs72651634
rs72651634
COL1A1
1 1.000 0.120 17 50191998 frameshift variant A/- del 0.700 1.000 1 2001 2001
dbSNP: rs72651640
rs72651640
COL1A1
1 1.000 0.120 17 50191842 frameshift variant A/- del 4.3E-06 0.700 1.000 1 1998 1998
dbSNP: rs72667023
rs72667023
COL1A1
2 0.925 0.120 17 50198170 frameshift variant A/- del 0.700 1.000 1 2015 2015
dbSNP: rs886042286
rs886042286
COL1A1
1 1.000 0.120 17 50186887 frameshift variant A/- del 0.700 1.000 1 2015 2015
dbSNP: rs1555571916
rs1555571916
COL1A1
1 1.000 0.120 17 50187051 frameshift variant A/- del 0.700 0
dbSNP: rs1555573039
rs1555573039
COL1A1
1 1.000 0.120 17 50191479 frameshift variant A/- del 0.700 0
dbSNP: rs1555574638
rs1555574638
COL1A1
1 1.000 0.120 17 50197750 frameshift variant A/- del 0.700 0