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: C2745959
Disease: Spondyloepiphyseal dysplasia, congenita
Spondyloepiphyseal dysplasia, congenita 		0.800 1.000 0 1989 2001
dbSNP: rs121912874
rs121912874
COL2A1
0.716 0.400 12 47978329 missense variant G/A snv
CUI: C0700635
Disease: Strudwick syndrome
Strudwick syndrome 		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: C1835437
Disease: Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type 		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: rs121912874
rs121912874
COL2A1
0.716 0.400 12 47978329 missense variant G/A snv
CUI: C1836683
Disease: Czech dysplasia, metatarsal type
Czech dysplasia, metatarsal type 		0.700 0
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: C0220685
Disease: Achondrogenesis type 2
Achondrogenesis type 2 		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: C4225273
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE
SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE 		0.700 0
dbSNP: rs121912874
rs121912874
COL2A1
0.716 0.400 12 47978329 missense variant G/A snv
CUI: C0432214
Disease: Namaqualand hip dysplasia
Namaqualand hip dysplasia 		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: C0796173
Disease: Spondyloperipheral dysplasia short ulna
Spondyloperipheral dysplasia short ulna 		0.700 0
dbSNP: rs121912874
rs121912874
COL2A1
0.716 0.400 12 47978329 missense variant G/A snv
CUI: C1836080
Disease: Stickler Syndrome, Type I, Nonsyndromic Ocular
Stickler Syndrome, Type I, Nonsyndromic Ocular 		0.700 0