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rs61734651

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs61734651(C;T)
Make rs61734651(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position62819980
GeneCOL9A3
is asnp
is mentioned by
dbSNPrs61734651
dbSNP (classic)rs61734651
ClinGenrs61734651
ebirs61734651
HLIrs61734651
Exacrs61734651
Gnomadrs61734651
Varsomers61734651
LitVarrs61734651
Maprs61734651
PheGenIrs61734651
Biobankrs61734651
1000 genomesrs61734651
hgdprs61734651
ensemblrs61734651
geneviewrs61734651
scholarrs61734651
googlers61734651
pharmgkbrs61734651
gwascentralrs61734651
openSNPrs61734651
23andMers61734651
SNPshotrs61734651
SNPdbers61734651
MSV3drs61734651
GWAS Ctlgrs61734651
GMAF0.03076
Max Magnitude0

rs61734651, most commonly known as the Trp3 allele yet technically also known as c.307C>T, p.Arg103Trp and R103W, represents a variant in the COL9A3 gene on chromosome 20.

Several studies, albeit older ones and relatively small ones, have linked the rs61734651(T) allele to somewhat higher risk (odds ratio of ~3) to lumbar disc disease. However, more recent entries to ClinVar all evaluate this variant as benign, although without supplying their reasoning for so doing.

OMIM120270
Desc
Variant0003
Relatedalso


ClinVar
Risk rs61734651(T;T)
Alt rs61734651(T;T)
Reference Rs61734651(C;C)
Significance Other
Disease Intervertebral disc disease not specified Multiple Epiphyseal Dysplasia
Variation info
Gene COL9A3
CLNDBN Intervertebral disc disease, susceptibility to not specified Multiple Epiphyseal Dysplasia, Dominant
Reversed 0
HGVS NC_000020.10:g.61451332C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000018677.3, RCV000178853.2, RCV000261594.1,