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: 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