Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518908
rs1057518908
COL2A1
CUI: C0026760
Disease: Multiple Epiphyseal Dysplasia
Multiple Epiphyseal Dysplasia 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518908
rs1057518908
COL2A1
CUI: C1384666
Disease: hearing impairment
hearing impairment 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518908
rs1057518908
COL2A1
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518908
rs1057518908
COL2A1
CUI: C0349588
Disease: Short stature
Short stature 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518908
rs1057518908
COL2A1
CUI: C1846442
Disease: Hypoplastic acetabulae
Hypoplastic acetabulae 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1057518908
rs1057518908
COL2A1
CUI: C1328407
Disease: Hip Dysplasia
Hip Dysplasia 		T 0.700 GeneticVariation CLINVAR