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rs80338905

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338905(C;T)
Make rs80338905(T;T)
ReferenceGRCh37.p5 37.3/137
Chromosome9
Position2645603
GeneVLDLR
is asnp
is mentioned by
dbSNPrs80338905
ebirs80338905
HLIrs80338905
Exacrs80338905
Varsomers80338905
Maprs80338905
PheGenIrs80338905
hapmaprs80338905
1000 genomesrs80338905
hgdprs80338905
ensemblrs80338905
gopubmedrs80338905
geneviewrs80338905
scholarrs80338905
googlers80338905
pharmgkbrs80338905
gwascentralrs80338905
openSNPrs80338905
23andMers80338905
23andMe allrs80338905
SNP Nexus

SNPshotrs80338905
SNPdbers80338905
MSV3drs80338905
GWAS Ctlgrs80338905
Max Magnitude0
ClinVar
Risk rs80338905(A,T;A,T)
Alt rs80338905(A,T;A,T)
Reference rs80338905(C;C)
Significance Pathogenic
Disease Cerebellar ataxia
Variation info
Gene VLDLR
CLNDBN Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1
Reversed 0
HGVS NC_000009.11:g.2645603C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000020555.22,


[PMID 18043714] Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome.