present in Gene: CHADL
present in Chromosome: 22
Position on Chromosome: 41238083
Alleles of this Variant: -/GCCCGCGC
rs532464664 in
CHADL gene and
Degenerative polyarthritis
PMID 28319091 2017 We discovered two rare signals that strongly associate with osteoarthritis total hip replacement: a missense variant, c.1141G>C (p.Asp369His), in the COMP gene (allelic frequency = 0.026%, P = 4.0 × 10<sup>-12</sup>, odds ratio (OR) = 16.7) and a frameshift mutation, rs532464664 (p.Val330Glyfs*106), in the CHADL gene that associates through a recessive mode of inheritance (homozygote frequency = 0.15%, P = 4.5 × 10<sup>-18</sup>, OR = 7.71).
rs532464664 in
CHADL gene and
Osteoarthritis of hip
PMID 30374069 2018 Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis.
rs532464664 in
CHADL gene and
Osteoarthritis, Knee
PMID 30374069 2018 Meta-analysis of Icelandic and UK data sets identifies missense variants in SMO, IL11, COL11A1 and 13 more new loci associated with osteoarthritis.