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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
ebirs61734651
HLIrs61734651
Exacrs61734651
Varsomers61734651
Maprs61734651
PheGenIrs61734651
hapmaprs61734651
1000 genomesrs61734651
hgdprs61734651
ensemblrs61734651
gopubmedrs61734651
geneviewrs61734651
scholarrs61734651
googlers61734651
pharmgkbrs61734651
gwascentralrs61734651
openSNPrs61734651
23andMers61734651
23andMe allrs61734651
SNP Nexus

SNPshotrs61734651
SNPdbers61734651
MSV3drs61734651
GWAS Ctlgrs61734651
GMAF0.03076
Max Magnitude0
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
Variation info
Gene COL9A3
CLNDBN Intervertebral disc disease, susceptibility to not specified
Reversed 0
HGVS NC_000020.10:g.61451332C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018677.3, RCV000178853.1,



GET Evidence
COL9A3-R103W
aa_change Arg103Trp
aa_change_short R103W
impact pathogenic
qualified_impact Moderate clinical importance, Likely pathogenic
overall_frequency 0.0480573
summary Carriers of this collagen variant are associated with having a significantly increased risk of lumbar disc disease (~11% total risk compared to a typical risk of 4%).