Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2229783
rs2229783
COL11A1
1.000 0.040 1 102886895 missense variant A/C;G snv 0.59
CUI: C2745963
Disease: Kashin-Beck Disease
Kashin-Beck Disease 		0.010 < 0.001 1 2018 2018
dbSNP: rs139064549
rs139064549
COL11A1
1.000 0.080 1 102888579 missense variant G/C snv 8.6E-03 8.8E-03
CUI: C0025295
Disease: Meningitis, Pneumococcal
Meningitis, Pneumococcal 		0.010 1.000 1 2016 2016
dbSNP: rs1676486
rs1676486
COL11A1
0.851 0.120 1 102888582 missense variant A/G;T snv 0.80; 4.0E-06
CUI: C0281899
Disease: Prolapsed lumbar disc
Prolapsed lumbar disc 		0.020 1.000 2 2007 2013
dbSNP: rs1676486
rs1676486
COL11A1
0.851 0.120 1 102888582 missense variant A/G;T snv 0.80; 4.0E-06
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.020 1.000 2 2014 2019
dbSNP: rs1676486
rs1676486
COL11A1
0.851 0.120 1 102888582 missense variant A/G;T snv 0.80; 4.0E-06
CUI: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma 		0.020 1.000 2 2014 2019
dbSNP: rs1676486
rs1676486
COL11A1
0.851 0.120 1 102888582 missense variant A/G;T snv 0.80; 4.0E-06
CUI: C0026857
Disease: Musculoskeletal Diseases
Musculoskeletal Diseases 		0.010 1.000 1 2013 2013
dbSNP: rs1676486
rs1676486
COL11A1
0.851 0.120 1 102888582 missense variant A/G;T snv 0.80; 4.0E-06
CUI: C0030193
Disease: Pain
Pain 		0.010 1.000 1 2013 2013
dbSNP: rs1676486
rs1676486
COL11A1
0.851 0.120 1 102888582 missense variant A/G;T snv 0.80; 4.0E-06
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 1.000 1 2013 2013
dbSNP: rs1676486
rs1676486
COL11A1
0.851 0.120 1 102888582 missense variant A/G;T snv 0.80; 4.0E-06
CUI: C0018681
Disease: Headache
Headache 		0.010 1.000 1 2013 2013
dbSNP: rs1254394380
rs1254394380
COL11A1
0.882 0.160 1 102888618 stop gained G/A snv
CUI: C0158252
Disease: Intervertebral disc disorder
Intervertebral disc disorder 		0.010 1.000 1 2014 2014
dbSNP: rs1254394380
rs1254394380
COL11A1
0.882 0.160 1 102888618 stop gained G/A snv
CUI: C0410606
Disease: Cervical Disc Degenerative Disorder
Cervical Disc Degenerative Disorder 		0.010 1.000 1 2018 2018
dbSNP: rs1254394380
rs1254394380
COL11A1
0.882 0.160 1 102888618 stop gained G/A snv
CUI: C0391826
Disease: Lhermitte-Duclos disease
Lhermitte-Duclos disease 		0.010 1.000 1 2018 2018
dbSNP: rs1254394380
rs1254394380
COL11A1
0.882 0.160 1 102888618 stop gained G/A snv
CUI: C0221775
Disease: Lumbar disc disease
Lumbar disc disease 		0.010 1.000 1 2018 2018
dbSNP: rs1553193910
rs1553193910
COL11A1
0.925 0.280 1 102888730 missense variant C/A snv
CUI: C1858084
Disease: STICKLER SYNDROME, TYPE II (disorder)
STICKLER SYNDROME, TYPE II (disorder) 		0.700 1.000 3 1996 2010
dbSNP: rs1553193910
rs1553193910
COL11A1
0.925 0.280 1 102888730 missense variant C/A snv
CUI: C0265235
Disease: Marshall syndrome
Marshall syndrome 		0.700 0
dbSNP: rs1553193913
rs1553193913
COL11A1
1.000 0.080 1 102888739 missense variant C/T snv
CUI: C1858084
Disease: STICKLER SYNDROME, TYPE II (disorder)
STICKLER SYNDROME, TYPE II (disorder) 		0.700 1.000 3 1996 2010
dbSNP: rs866783525
rs866783525
COL11A1
1.000 0.080 1 102889523 stop gained C/A;T snv
CUI: C1858084
Disease: STICKLER SYNDROME, TYPE II (disorder)
STICKLER SYNDROME, TYPE II (disorder) 		0.700 0
dbSNP: rs1241164
rs1241164
COL11A1
1.000 0.040 1 102890921 intron variant C/T snv 0.14
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		0.020 1.000 2 2014 2017
dbSNP: rs1553196515
rs1553196515
COL11A1
1 102898938 splice region variant T/A snv
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.700 0
dbSNP: rs1553200431
rs1553200431
COL11A1
0.851 0.240 1 102912180 inframe deletion CCTCACCAGATGGGCCAG/- delins
CUI: C1854114
Disease: Short nose
Short nose 		0.700 0
dbSNP: rs1553200431
rs1553200431
COL11A1
0.851 0.240 1 102912180 inframe deletion CCTCACCAGATGGGCCAG/- delins
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis 		0.700 0
dbSNP: rs1553200431
rs1553200431
COL11A1
0.851 0.240 1 102912180 inframe deletion CCTCACCAGATGGGCCAG/- delins
CUI: C0344530
Disease: Congenital keratoglobus
Congenital keratoglobus 		0.700 0
dbSNP: rs1553200431
rs1553200431
COL11A1
0.851 0.240 1 102912180 inframe deletion CCTCACCAGATGGGCCAG/- delins
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0
dbSNP: rs1553200431
rs1553200431
COL11A1
0.851 0.240 1 102912180 inframe deletion CCTCACCAGATGGGCCAG/- delins
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs1553200431
rs1553200431
COL11A1
0.851 0.240 1 102912180 inframe deletion CCTCACCAGATGGGCCAG/- delins
CUI: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla 		0.700 0