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rs80356556

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80356556(C;C)
Make rs80356556(C;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position83537002
GeneVCAN
is asnp
is mentioned by
dbSNPrs80356556
ebirs80356556
HLIrs80356556
Exacrs80356556
Varsomers80356556
Maprs80356556
PheGenIrs80356556
hapmaprs80356556
1000 genomesrs80356556
hgdprs80356556
ensemblrs80356556
gopubmedrs80356556
geneviewrs80356556
scholarrs80356556
googlers80356556
pharmgkbrs80356556
gwascentralrs80356556
openSNPrs80356556
23andMers80356556
23andMe allrs80356556
SNP Nexus

SNPshotrs80356556
SNPdbers80356556
MSV3drs80356556
GWAS Ctlgrs80356556
Max Magnitude0
ClinVar
Risk rs80356556(A,C;A,C)
Alt rs80356556(A,C;A,C)
Reference rs80356556(T;T)
Significance Pathogenic
Disease Wagner syndrome
Variation info
Gene VCAN
CLNDBN Wagner syndrome
Reversed 0
HGVS NC_000005.9:g.82832821T>A; NC_000005.9:g.82832821T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000020592.3, RCV000020593.3,


[PMID 16877430] Erosive vitreoretinopathy and wagner disease are caused by intronic mutations in CSPG2/Versican that result in an imbalance of splice variants.