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rs80356554

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356554(A;A)
Make rs80356554(A;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position83537006
GeneVCAN
is asnp
is mentioned by
dbSNPrs80356554
ebirs80356554
HLIrs80356554
Exacrs80356554
Varsomers80356554
Maprs80356554
PheGenIrs80356554
hapmaprs80356554
1000 genomesrs80356554
hgdprs80356554
ensemblrs80356554
gopubmedrs80356554
geneviewrs80356554
scholarrs80356554
googlers80356554
pharmgkbrs80356554
gwascentralrs80356554
openSNPrs80356554
23andMers80356554
23andMe allrs80356554
SNP Nexus

SNPshotrs80356554
SNPdbers80356554
MSV3drs80356554
GWAS Ctlgrs80356554
Max Magnitude0
ClinVar
Risk rs80356554(A,C,T;A,C,T)
Alt rs80356554(A,C,T;A,C,T)
Reference rs80356554(G;G)
Significance Pathogenic
Disease Wagner syndrome
Variation info
Gene VCAN
CLNDBN Wagner syndrome
Reversed 0
HGVS NC_000005.9:g.82832825G>A; NC_000005.9:g.82832825G>C; NC_000005.9:g.82832825G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000020591.3, RCV000034809.29, RCV000203314.1,


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