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: rs121912876
rs121912876
COL2A1
0.925 0.280 12 47994041 missense variant G/A snv
CUI: C1836683
Disease: Czech dysplasia, metatarsal type
Czech dysplasia, metatarsal type 		0.840 1.000 0 1993 2016
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: 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: 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: rs121912891
rs121912891
COL2A1
0.882 0.080 12 47976052 missense variant C/T snv 7.0E-06
CUI: C4551562
Disease: AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 		0.800 1.000 0 2005 2011
dbSNP: rs387906558
rs387906558
COL2A1 ; LOC105369752
1.000 0.080 12 47982892 missense variant C/T snv
CUI: C4551562
Disease: AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 		0.800 1.000 0 2005 2011
dbSNP: rs121912884
rs121912884
COL2A1
1.000 0.240 12 47985575 missense variant G/A snv
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.800 1.000 0 1994 2010
dbSNP: rs121912891
rs121912891
COL2A1
0.882 0.080 12 47976052 missense variant C/T snv 7.0E-06
CUI: C0023234
Disease: Legg-Calve-Perthes Disease
Legg-Calve-Perthes Disease 		0.820 1.000 0 2007 2010
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: rs121912898
rs121912898
COL2A1
1.000 0.080 12 48000041 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: 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
dbSNP: rs121912888
rs121912888
COL2A1
1.000 0.080 12 47985946 missense variant C/T snv
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		0.800 1.000 0 1989 2007
dbSNP: rs121912889
rs121912889
COL2A1
0.851 0.160 12 47974234 missense variant T/C snv
CUI: C0796173
Disease: Spondyloperipheral dysplasia short ulna
Spondyloperipheral dysplasia short ulna 		0.710 1.000 0 2007 2007
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: rs121912880
rs121912880
COL2A1
0.882 0.080 12 47986353 missense variant C/A;T snv
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		0.800 1.000 0 1995 2005
dbSNP: rs121912881
rs121912881
COL2A1
1.000 0.080 12 47986388 missense variant C/A snv
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		0.800 1.000 0 1995 2005
dbSNP: rs121912885
rs121912885
COL2A1
1.000 0.080 12 47983435 missense variant G/A;T snv 1.6E-05
CUI: C1836080
Disease: Stickler Syndrome, Type I, Nonsyndromic Ocular
Stickler Syndrome, Type I, Nonsyndromic Ocular 		0.800 1.000 0 2000 2005
dbSNP: rs121912889
rs121912889
COL2A1
0.851 0.160 12 47974234 missense variant T/C snv
CUI: C1835437
Disease: Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type 		0.800 1.000 0 2000 2005
dbSNP: rs121912895
rs121912895
COL2A1
1.000 0.080 12 47978320 missense variant T/C snv
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		0.800 1.000 0 1995 2005