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: 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 3 1996 2010
dbSNP: rs3753841
rs3753841
COL11A1
0.827 0.080 1 102914362 missense variant G/A snv 0.61 0.49
CUI: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma 		0.780 1.000 9 2013 2019
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: 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: 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: 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: rs1415364
rs1415364
COL11A1
1 103087259 intron variant C/T snv 0.48
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
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: rs1572521
rs1572521
COL11A1
1 103097312 intron variant T/G snv 0.96
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2061705
rs2061705
COL11A1
1 102976258 intron variant A/G;T snv
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2018 2018
dbSNP: rs2061708
rs2061708
COL11A1
1 102951647 intron variant G/A;C;T snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs2061708
rs2061708
COL11A1
1 102951647 intron variant G/A;C;T snv
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs2126643
rs2126643
COL11A1
1.000 0.040 1 102938828 intron variant T/C snv 0.62
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		0.700 1.000 1 2018 2018
dbSNP: rs2376280
rs2376280
COL11A1
1 103102908 intron variant G/A snv 0.50
CUI: C0021704
Disease: Intelligence
Intelligence 		0.700 1.000 1 2018 2018
dbSNP: rs2622849
rs2622849
COL11A1
1.000 0.120 1 102955788 intron variant T/A;C;G snv
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		0.700 1.000 1 2018 2018
dbSNP: rs2622873
rs2622873
COL11A1
0.882 0.040 1 103000497 intron variant T/C;G snv
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		0.700 1.000 1 2019 2019
dbSNP: rs2622873
rs2622873
COL11A1
0.882 0.040 1 103000497 intron variant T/C;G snv
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.700 1.000 1 2019 2019
dbSNP: rs2622873
rs2622873
COL11A1
0.882 0.040 1 103000497 intron variant T/C;G snv
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		0.700 1.000 1 2019 2019
dbSNP: rs3753841
rs3753841
COL11A1
0.827 0.080 1 102914362 missense variant G/A snv 0.61 0.49
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.700 1.000 1 2012 2012
dbSNP: rs3753841
rs3753841
COL11A1
0.827 0.080 1 102914362 missense variant G/A snv 0.61 0.49
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		0.700 1.000 1 2012 2012
dbSNP: rs4338381
rs4338381
COL11A1
1.000 0.040 1 103107371 intron variant A/C;G snv
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		0.700 1.000 1 2019 2019