Gene: COL10A1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs111033553
rs111033553
COL10A1 ; NT5DC1
0.010 GeneticVariation BEFREE Hence, we examined the entire coding region of COL10A1 by direct sequencing of DNA from five unrelated patients with SMD and found a heterozygous missense mutation (Gly595Glu) cosegregating with the disease phenotype in one SMD family. 9837818

1998