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: 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: 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: rs1555167139
rs1555167139
COL2A1
12 47985937 missense variant C/T snv
CUI: C0009782
Disease: Connective Tissue Diseases
Connective Tissue Diseases 		0.700 0
dbSNP: rs760093841
rs760093841
COL2A1
1.000 12 47975548 missense variant C/A;G;T snv 4.1E-06
CUI: C4225273
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE 		0.700 0
dbSNP: rs765795867
rs765795867
COL2A1
12 47978098 missense variant C/A;T snv
CUI: C0426817
Disease: Short ribs
Short ribs 		0.700 0
dbSNP: rs765795867
rs765795867
COL2A1
12 47978098 missense variant C/A;T snv
CUI: C1860191
Disease: Absent vertebral body mineralization
Absent vertebral body mineralization 		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: rs869312907
rs869312907
COL2A1
0.925 0.040 12 47995910 missense variant C/T snv
CUI: C4225273
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE 		0.810 1.000 0 2015 2015
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: 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: 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: 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: 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: 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
dbSNP: rs121912871
rs121912871
COL2A1
1.000 0.080 12 47989769 missense variant C/T snv
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		0.700 0
dbSNP: rs121912872
rs121912872
COL2A1
1.000 0.080 12 47994440 missense variant C/T snv
CUI: C1836080
Disease: Stickler Syndrome, Type I, Nonsyndromic Ocular
Stickler Syndrome, Type I, Nonsyndromic Ocular 		0.800 1.000 0 1993 2008
dbSNP: rs121912875
rs121912875
COL2A1 ; LOC105369752
1.000 0.080 12 47979519 missense variant C/A snv
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		0.800 1.000 0 1995 2005
dbSNP: rs121912878
rs121912878
COL2A1
1.000 0.080 12 47978389 missense variant C/T snv
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		0.800 1.000 0 1989 2007
dbSNP: rs121912879
rs121912879
COL2A1 ; LOC105369752
0.925 0.080 12 47980017 missense variant C/G snv
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		0.800 1.000 0 1989 2007