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: rs121912880
rs121912880
COL2A1
0.882 0.080 12 47986353 missense variant C/A;T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 13 1990 2016
dbSNP: rs1555164672
rs1555164672
COL2A1
1.000 12 47975324 stop gained C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 13 1990 2016
dbSNP: rs1555165501
rs1555165501
COL2A1 ; LOC105369752
1.000 12 47978703 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 13 1990 2016
dbSNP: rs1555165501
rs1555165501
COL2A1 ; LOC105369752
1.000 12 47978703 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 13 1990 2016
dbSNP: rs1555167847
rs1555167847
COL2A1
1.000 12 47989768 missense variant C/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 13 1990 2016
dbSNP: rs121912886
rs121912886
COL2A1
0.925 0.080 12 47974090 missense variant G/A;T snv 8.0E-05
CUI: C0796173
Disease: Spondyloperipheral dysplasia short ulna
Spondyloperipheral dysplasia short ulna 		0.700 1.000 1 2001 2001
dbSNP: rs1565686170
rs1565686170
COL2A1
1.000 0.240 12 47989227 splice donor variant C/G snv
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia 		0.700 1.000 1 2013 2013
dbSNP: rs864621973
rs864621973
COL2A1
1.000 0.080 12 47977128 stop gained C/A;T snv 4.1E-06
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		0.700 1.000 1 2015 2015
dbSNP: rs1025202963
rs1025202963
COL2A1
1.000 0.240 12 47987655 missense variant C/T snv
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.700 0
dbSNP: rs1057518908
rs1057518908
COL2A1
0.882 0.120 12 47984112 missense variant C/T snv
CUI: C1846442
Disease: Hypoplastic acetabulae
Hypoplastic acetabulae 		0.700 0
dbSNP: rs1057518908
rs1057518908
COL2A1
0.882 0.120 12 47984112 missense variant C/T snv
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.700 0
dbSNP: rs1057518908
rs1057518908
COL2A1
0.882 0.120 12 47984112 missense variant C/T snv
CUI: C1384666
Disease: hearing impairment
hearing impairment 		0.700 0
dbSNP: rs1057518908
rs1057518908
COL2A1
0.882 0.120 12 47984112 missense variant C/T snv
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		0.700 0
dbSNP: rs1057518908
rs1057518908
COL2A1
0.882 0.120 12 47984112 missense variant C/T snv
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		0.700 0
dbSNP: rs1057518908
rs1057518908
COL2A1
0.882 0.120 12 47984112 missense variant C/T snv
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs1057518911
rs1057518911
COL2A1
12 47976531 missense variant C/G snv
CUI: C1849937
Disease: Disproportionate short-limb short stature
Disproportionate short-limb short stature 		0.700 0
dbSNP: rs1057518911
rs1057518911
COL2A1
12 47976531 missense variant C/G snv
CUI: C0426790
Disease: Narrow thorax
Narrow thorax 		0.700 0
dbSNP: rs1209546147
rs1209546147
COL2A1 ; LOC105369752
1.000 0.040 12 47980597 missense variant C/T snv
CUI: C0410528
Disease: Skeletal dysplasia
Skeletal dysplasia 		0.700 0
dbSNP: rs121912864
rs121912864
COL2A1
1.000 0.080 12 47977373 missense variant C/T snv
CUI: C0542428
Disease: Hypochondrogenesis
Hypochondrogenesis 		0.700 0
dbSNP: rs121912865
rs121912865
COL2A1 ; LOC105369752
1.000 0.080 12 47982886 missense variant G/A snv 7.0E-06
CUI: C0432214
Disease: Namaqualand hip dysplasia
Namaqualand hip dysplasia 		0.800 1.000 0 1990 1995
dbSNP: rs121912866
rs121912866
COL2A1 ; LOC105369752
1.000 0.240 12 47978698 stop gained G/A snv
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.700 0
dbSNP: rs121912867
rs121912867
COL2A1 ; LOC105369752
0.925 0.080 12 47982142 missense variant C/T snv
CUI: C0542428
Disease: Hypochondrogenesis
Hypochondrogenesis 		0.700 0
dbSNP: rs121912868
rs121912868
COL2A1
1.000 0.080 12 47977607 missense variant C/T snv
CUI: C0542428
Disease: Hypochondrogenesis
Hypochondrogenesis 		0.700 0
dbSNP: rs121912869
rs121912869
COL2A1
1.000 0.240 12 47995904 stop gained G/A snv
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.700 0
dbSNP: rs121912870
rs121912870
COL2A1
1.000 0.080 12 47975971 missense variant C/T snv
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		0.800 1.000 0 1989 2001