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rs80356553

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356553(A;A)
Make rs80356553(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position83542269
GeneVCAN
is asnp
is mentioned by
dbSNPrs80356553
ebirs80356553
HLIrs80356553
Exacrs80356553
Varsomers80356553
Maprs80356553
PheGenIrs80356553
hapmaprs80356553
1000 genomesrs80356553
hgdprs80356553
ensemblrs80356553
gopubmedrs80356553
geneviewrs80356553
scholarrs80356553
googlers80356553
pharmgkbrs80356553
gwascentralrs80356553
openSNPrs80356553
23andMers80356553
23andMe allrs80356553
SNP Nexus

SNPshotrs80356553
SNPdbers80356553
MSV3drs80356553
GWAS Ctlgrs80356553
Max Magnitude0
ClinVar
Risk rs80356553(A,T;A,T)
Alt rs80356553(A,T;A,T)
Reference rs80356553(G;G)
Significance Pathogenic
Disease Wagner syndrome
Variation info
Gene VCAN
CLNDBN Wagner syndrome
Reversed 0
HGVS NC_000005.9:g.82838088G>A; NC_000005.9:g.82838088G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000020594.3, RCV000203374.1,


[PMID 16636652] Identification of the genetic defect in the original Wagner syndrome family.

[PMID 17035272OA-icon.png] Clinical characterisation and molecular analysis of Wagner syndrome.