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rs137853213

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CA;CA) 0 common in clinvar
Make rs137853213(CA;TG)
Make rs137853213(TG;TG)
ReferenceGRCh38 38.1/141
Chromosome1
Position40307477
GeneCOL9A2
is asnp
is mentioned by
dbSNPrs137853213
dbSNP (old)rs137853213
ClinGenrs137853213
ebirs137853213
HLIrs137853213
Exacrs137853213
Gnomadrs137853213
Varsomers137853213
Maprs137853213
PheGenIrs137853213
Biobankrs137853213
1000 genomesrs137853213
hgdprs137853213
ensemblrs137853213
gopubmedrs137853213
geneviewrs137853213
scholarrs137853213
googlers137853213
pharmgkbrs137853213
gwascentralrs137853213
openSNPrs137853213
23andMers137853213
23andMe allrs137853213
SNPshotrs137853213
SNPdbers137853213
MSV3drs137853213
GWAS Ctlgrs137853213
Max Magnitude0

rs137853213, often referred to as the Trp2 allele but technically also known as c.976_977delCAinsTG, p.Gln326Trp, and Q326W, represents a well-studied variant in the COL9A2 gene on chromosome 1.

Although initial reports associated the rs137853213 variant allele with intervertebral disc disease, subsequent studies have questioned this, and currently ClinVar indicates that this is considered a variant of uncertain significance.

OMIM120260
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137853213(TG;TG)
Alt rs137853213(TG;TG)
Reference Rs137853213(CA;CA)
Significance Other
Disease Intervertebral disc disease
Variation info
Gene COL9A2
CLNDBN Intervertebral disc disease, susceptibility to
Reversed 1
HGVS NC_000001.10:g.40773149_40773150delTGinsCA
CLNSRC OMIM Allelic Variant
CLNACC RCV000018683.2,