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: rs121912874
rs121912874
COL2A1
0.716 0.400 12 47978329 missense variant G/A snv
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.700 0
dbSNP: rs121912874
rs121912874
COL2A1
0.716 0.400 12 47978329 missense variant G/A snv
CUI: C1851536
Disease: Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness 		0.700 0
dbSNP: rs121912874
rs121912874
COL2A1
0.716 0.400 12 47978329 missense variant G/A snv
CUI: C0023234
Disease: Legg-Calve-Perthes Disease
Legg-Calve-Perthes Disease 		0.700 0
dbSNP: rs121912874
rs121912874
COL2A1
0.716 0.400 12 47978329 missense variant G/A snv
CUI: C4551562
Disease: AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 		0.700 0
dbSNP: rs121912874
rs121912874
COL2A1
0.716 0.400 12 47978329 missense variant G/A snv
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia 		0.700 0
dbSNP: rs121912876
rs121912876
COL2A1
0.925 0.280 12 47994041 missense variant G/A snv
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.700 0
dbSNP: rs121912880
rs121912880
COL2A1
0.882 0.080 12 47986353 missense variant C/A;T snv
CUI: C0796173
Disease: Spondyloperipheral dysplasia short ulna
Spondyloperipheral dysplasia short ulna 		0.700 0
dbSNP: rs121912882
rs121912882
COL2A1 ; LOC105369752
0.851 0.280 12 47979534 missense variant G/A snv
CUI: C0027092
Disease: Myopia
Myopia 		0.700 0
dbSNP: rs121912887
rs121912887
COL2A1
1.000 0.120 12 47974835 missense variant C/G;T snv 4.0E-06
CUI: C1852989
Disease: Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia
Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia 		0.700 0
dbSNP: rs121912890
rs121912890
COL2A1
1.000 0.080 12 47974092 stop gained G/T snv
CUI: C0796173
Disease: Spondyloperipheral dysplasia short ulna
Spondyloperipheral dysplasia short ulna 		0.700 0
dbSNP: rs121912893
rs121912893
COL2A1
0.708 0.400 12 47983721 stop gained G/A;T snv
CUI: C4225273
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE 		0.700 0
dbSNP: rs121912893
rs121912893
COL2A1
0.708 0.400 12 47983721 stop gained G/A;T snv
CUI: C2020284
Disease: Stickler syndrome, type 1
Stickler syndrome, type 1 		0.700 0
dbSNP: rs121912893
rs121912893
COL2A1
0.708 0.400 12 47983721 stop gained G/A;T snv
CUI: C1836080
Disease: Stickler Syndrome, Type I, Nonsyndromic Ocular
Stickler Syndrome, Type I, Nonsyndromic Ocular 		0.700 0
dbSNP: rs121912893
rs121912893
COL2A1
0.708 0.400 12 47983721 stop gained G/A;T snv
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		0.700 0
dbSNP: rs121912893
rs121912893
COL2A1
0.708 0.400 12 47983721 stop gained G/A;T snv
CUI: C1836081
Disease: RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT
RHEGMATOGENOUS RETINAL DETACHMENT, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs121912893
rs121912893
COL2A1
0.708 0.400 12 47983721 stop gained G/A;T snv
CUI: C0023234
Disease: Legg-Calve-Perthes Disease
Legg-Calve-Perthes Disease 		0.700 0
dbSNP: rs121912893
rs121912893
COL2A1
0.708 0.400 12 47983721 stop gained G/A;T snv
CUI: C1836683
Disease: Czech dysplasia, metatarsal type
Czech dysplasia, metatarsal type 		0.700 0
dbSNP: rs121912893
rs121912893
COL2A1
0.708 0.400 12 47983721 stop gained G/A;T snv
CUI: C0796173
Disease: Spondyloperipheral dysplasia short ulna
Spondyloperipheral dysplasia short ulna 		0.700 0
dbSNP: rs121912893
rs121912893
COL2A1
0.708 0.400 12 47983721 stop gained G/A;T snv
CUI: C0265279
Disease: Kniest dysplasia
Kniest dysplasia 		0.700 0
dbSNP: rs121912893
rs121912893
COL2A1
0.708 0.400 12 47983721 stop gained G/A;T snv
CUI: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		0.700 0
dbSNP: rs121912893
rs121912893
COL2A1
0.708 0.400 12 47983721 stop gained G/A;T snv
CUI: C0432214
Disease: Namaqualand hip dysplasia
Namaqualand hip dysplasia 		0.700 0
dbSNP: rs121912893
rs121912893
COL2A1
0.708 0.400 12 47983721 stop gained G/A;T snv
CUI: C4551562
Disease: AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1
AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1 		0.700 0
dbSNP: rs121912893
rs121912893
COL2A1
0.708 0.400 12 47983721 stop gained G/A;T snv
CUI: C1835437
Disease: Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type 		0.700 0
dbSNP: rs121912893
rs121912893
COL2A1
0.708 0.400 12 47983721 stop gained G/A;T snv
CUI: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		0.700 0
dbSNP: rs121912893
rs121912893
COL2A1
0.708 0.400 12 47983721 stop gained G/A;T snv
CUI: C1851536
Disease: Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness
Epiphyseal Dysplasia, Multiple, with Myopia and Conductive Deafness 		0.700 0