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: 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: 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: 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: rs121912873
rs121912873
COL2A1
1.000 0.240 12 47977627 frameshift variant A/- del
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: 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: 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: 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: 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: 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: 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: C1836080
Disease: Stickler Syndrome, Type I, Nonsyndromic Ocular
Stickler Syndrome, Type I, Nonsyndromic Ocular 		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