Have questions? Visit https://www.reddit.com/r/SNPedia

rs80356555

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80356555(A;G)
Make rs80356555(G;G)
ReferenceGRCh38 38.1/141
Chromosome5
Position83537005
GeneVCAN
is asnp
is mentioned by
dbSNPrs80356555
ebirs80356555
HLIrs80356555
Exacrs80356555
Varsomers80356555
Maprs80356555
PheGenIrs80356555
hapmaprs80356555
1000 genomesrs80356555
hgdprs80356555
ensemblrs80356555
gopubmedrs80356555
geneviewrs80356555
scholarrs80356555
googlers80356555
pharmgkbrs80356555
gwascentralrs80356555
openSNPrs80356555
23andMers80356555
23andMe allrs80356555
SNP Nexus

SNPshotrs80356555
SNPdbers80356555
MSV3drs80356555
GWAS Ctlgrs80356555
Max Magnitude0
OMIM118661
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80356555(G,T;G,T)
Alt rs80356555(G,T;G,T)
Reference rs80356555(A;A)
Significance Pathogenic
Disease Wagner syndrome
Variation info
Gene VCAN
CLNDBN Wagner syndrome
Reversed 0
HGVS NC_000005.9:g.82832824A>G; NC_000005.9:g.82832824A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019046.28, RCV000034807.29,


[PMID 16043844] Identification of a novel splice site mutation of the CSPG2 gene in a Japanese family with Wagner syndrome.

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