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rs3803183

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs3803183(A;T)
Make rs3803183(T;T)
ReferenceGRCh38 38.1/141
Chromosome12
Position48004297
GeneCOL2A1
is asnp
is mentioned by
dbSNPrs3803183
ebirs3803183
HLIrs3803183
Exacrs3803183
Varsomers3803183
Maprs3803183
PheGenIrs3803183
hapmaprs3803183
1000 genomesrs3803183
hgdprs3803183
ensemblrs3803183
gopubmedrs3803183
geneviewrs3803183
scholarrs3803183
googlers3803183
pharmgkbrs3803183
gwascentralrs3803183
openSNPrs3803183
23andMers3803183
23andMe allrs3803183
SNP Nexus

SNPshotrs3803183
SNPdbers3803183
MSV3drs3803183
GWAS Ctlgrs3803183
GMAF0.3049
Max Magnitude0
? (A;A) (A;T) (T;T) 28
Venter snp
Source plos
Gene COL2A1
allele A
frequency
sift
HuRef 1103649434946
Disease Association Of special interest are three different variants that replace arginine codons at positions 206, 650 and 920 in the triple-helical domain with codons for cysteine, an amino acid not normally found in the triple-helical domain of type II collagen from any species. They are of special interest, because they are the only amino acid substitutions in the triple-helical domain that replaces a Y-position amino acid and cause a disease phenotype. Also, they are recurrent in that they have been found in more than one unrelated individual.



[PMID 19387081OA-icon.png] COL1A1 and COL2A1 genes and myopia susceptibility: evidence of association and suggestive linkage to the COL2A1 locus

[PMID 18523590OA-icon.png] Genetic and epigenetic factors at COL2A1 and ABCA4 influence clinical outcome in congenital toxoplasmosis.

[PMID 19430638OA-icon.png] Host genetic and epigenetic factors in toxoplasmosis.


GET Evidence
COL2A1-T9S
aa_change Thr9Ser
aa_change_short T9S
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.790797
summary



ClinVar
Risk rs3803183(T;T)
Alt rs3803183(T;T)
Reference rs3803183(A;A)
Significance Non-pathogenic
Disease not specified
Variation info
Gene COL2A1
CLNDBN not specified
Reversed 1
HGVS NC_000012.11:g.48398080T>A
CLNSRC ClinVar Emory University
CLNACC RCV000079725.4,