Variant: rs121964863 

    present in Gene: DDR2
    present in Chromosome: 1
    Position on Chromosome: 162776341
    Alleles of this Variant: C/T

rs121964863 in DDR2 gene and SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE PMID 20223752 2010 We found that all SMED-SL missense mutants were defective in collagen-induced receptor activation and that the three previously reported mutants (p.T713I, p.I726R and p.R752C) were retained in the endoplasmic reticulum.

PMID 26463668 2016 Novel DDR2 mutation identified by whole exome sequencing in a Moroccan patient with spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type.

PMID 19110212 2009 Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications.