Source: CLINVAR

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: rs121912943
rs121912943
COL11A1
1.000 0.080 1 103004633 missense variant C/A snv
CUI: C1858084
Disease: STICKLER SYNDROME, TYPE II (disorder)
STICKLER SYNDROME, TYPE II (disorder) 		0.800 1.000 0 1996 2010
dbSNP: rs1553234339
rs1553234339
COL11A1
1.000 1 103012412 splice donor variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 6 1998 2014
dbSNP: rs1553234339
rs1553234339
COL11A1
1.000 1 103012412 splice donor variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 6 1998 2014
dbSNP: rs398122828
rs398122828
COL11A1
1.000 0.240 1 102915630 splice donor variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 6 1998 2014
dbSNP: rs1557877041
rs1557877041
COL11A1
1.000 0.080 1 102962705 missense variant C/T snv
CUI: C1858084
Disease: STICKLER SYNDROME, TYPE II (disorder)
STICKLER SYNDROME, TYPE II (disorder) 		0.700 1.000 3 2000 2016
dbSNP: rs1057518666
rs1057518666
COL11A1
1.000 0.080 1 102978703 splice region variant C/T snv
CUI: C1858084
Disease: STICKLER SYNDROME, TYPE II (disorder)
STICKLER SYNDROME, TYPE II (disorder) 		0.700 1.000 1 2010 2010
dbSNP: rs1557847904
rs1557847904
COL11A1
1.000 0.080 1 102939032 splice donor variant CA/- delins
CUI: C1858084
Disease: STICKLER SYNDROME, TYPE II (disorder)
STICKLER SYNDROME, TYPE II (disorder) 		0.700 1.000 1 1999 1999
dbSNP: rs1557932876
rs1557932876
COL11A1
1.000 0.080 1 103004637 inframe deletion TGAGGACCT/- delins
CUI: C1858084
Disease: STICKLER SYNDROME, TYPE II (disorder)
STICKLER SYNDROME, TYPE II (disorder) 		0.700 1.000 1 2001 2001
dbSNP: rs1057524237
rs1057524237
COL11A1
0.851 0.280 1 102915626 splice region variant C/T snv
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.700 0
dbSNP: rs1057524237
rs1057524237
COL11A1
0.851 0.280 1 102915626 splice region variant C/T snv
CUI: C1846423
Disease: Thick upper lip vermilion
Thick upper lip vermilion 		0.700 0
dbSNP: rs1057524237
rs1057524237
COL11A1
0.851 0.280 1 102915626 splice region variant C/T snv
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		0.700 0
dbSNP: rs1057524237
rs1057524237
COL11A1
0.851 0.280 1 102915626 splice region variant C/T snv
CUI: C0265235
Disease: Marshall syndrome
Marshall syndrome 		0.700 0
dbSNP: rs1057524237
rs1057524237
COL11A1
0.851 0.280 1 102915626 splice region variant C/T snv
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.700 0
dbSNP: rs1057524237
rs1057524237
COL11A1
0.851 0.280 1 102915626 splice region variant C/T snv
CUI: C0263417
Disease: Cutis verticis gyrata
Cutis verticis gyrata 		0.700 0
dbSNP: rs1057524237
rs1057524237
COL11A1
0.851 0.280 1 102915626 splice region variant C/T snv
CUI: C0036572
Disease: Seizures
Seizures 		0.700 0
dbSNP: rs121912944
rs121912944
COL11A1
1.000 1 102962750 missense variant C/A snv
CUI: C4015965
Disease: MARSHALL/STICKLER SYNDROME
MARSHALL/STICKLER SYNDROME 		0.700 0
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: 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: C0240310
Disease: Hypoplasia of the maxilla
Hypoplasia of the maxilla 		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: C0344530
Disease: Congenital keratoglobus
Congenital keratoglobus 		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: C0423113
Disease: Telecanthus
Telecanthus 		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: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0