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COL2A1

From SNPedia
is agene
is mentioned by
Full namecollagen, type II, alpha 1
EntrezGene1280
PheGenI1280
VariationViewer1280
ClinVarCOL2A1
GeneCardsCOL2A1
dbSNP1280
DiseasesCOL2A1
SADR1280
HugeNav1280
wikipediaCOL2A1
googleCOL2A1
gopubmedCOL2A1
EVSCOL2A1
HEFalMpCOL2A1
MyGene2COL2A1
23andMeCOL2A1
UniProtP02458
EnsemblENSG00000139219
OMIM120140
# SNPs124
 Max MagnitudeChromosome positionSummary
rs1034762047,995,860
rs1057518139047,981,776
rs1057518157047,977,608
rs1057518908047,984,112
rs1057518911047,976,531
rs1057521852047,985,531
rs1057524114047,978,674
rs1057524602047,984,103
rs1057524696047,985,727
rs1064793352048,000,072
rs1064794264047,995,882
rs1064794958047,987,264
rs1064796170047,974,238
rs1064796332047,987,113
rs1064796660047,980,941
rs1064797167047,985,560
rs1085307608047,985,811
rs1085307657047,989,245
rs121912864047,977,373
rs121912865047,982,886
rs121912866047,978,698
rs121912867047,982,142
rs121912868047,977,607
rs121912869047,995,904
rs121912870047,975,971
rs121912871047,989,769
rs121912872047,994,440
rs121912873047,977,627
rs121912874047,978,329
rs121912875047,979,519
rs121912876047,994,041
rs121912877047,993,825
rs121912878047,978,389
rs121912879047,980,017
rs121912880547,986,353
rs121912881047,986,388
rs121912882047,979,534
rs121912883047,976,043
rs121912884047,985,575
rs121912885047,983,435
rs121912886047,974,090
rs121912887047,974,835
rs121912888047,985,946
rs121912889047,974,234
rs121912890047,974,092
rs121912891047,976,052
rs121912892047,981,829
rs121912893047,983,721
rs121912894047,993,475
rs121912895047,978,320
... further results

The COL2A1 gene provides instructions for making one component of type II collagen, called the pro-alpha1(II) chain. Type II collagen adds structure and strength to the connective tissues that support the body's muscles, joints, organs, and skin.GHR

Mutations in the COL2A1 gene can lead to a wide variety of conditions, including GHR: