COL2A1, collagen type II alpha 1 chain, 1280

N. diseases: 496; N. variants: 96
Disease: Spondyloperipheral dysplasia short ulna ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121912889
rs121912889
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0796173
Disease:
Spondyloperipheral dysplasia short ulna 		0.710 GeneticVariation BEFREE However, the identification of the Y1391C mutation in this patient with disproportionate short stature made the diagnosis of spondyloperipheral dysplasia (SPD) more probable. 17726487 2007
dbSNP: rs121912889
rs121912889
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0796173
Disease:
Spondyloperipheral dysplasia short ulna 		C 0.710 CausalMutation CLINVAR
dbSNP: rs121912886
rs121912886
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0796173
Disease:
Spondyloperipheral dysplasia short ulna 		A 0.700 GeneticVariation CLINVAR Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenita. 11746045 2001
dbSNP: rs121912874
rs121912874
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0796173
Disease:
Spondyloperipheral dysplasia short ulna 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121912880
rs121912880
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0796173
Disease:
Spondyloperipheral dysplasia short ulna 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121912890
rs121912890
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0796173
Disease:
Spondyloperipheral dysplasia short ulna 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121912893
rs121912893
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0796173
Disease:
Spondyloperipheral dysplasia short ulna 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1565664375
rs1565664375
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0796173
Disease:
Spondyloperipheral dysplasia short ulna 		G 0.700 CausalMutation CLINVAR
dbSNP: rs794727261
rs794727261
Entrez Id: 1280
Gene Symbol: COL2A1
COL2A1
CUI: C0796173
Disease:
Spondyloperipheral dysplasia short ulna 		T 0.700 CausalMutation CLINVAR