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rs80338907

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80338907(C;T)
Make rs80338907(T;T)
ReferenceGRCh37 37.1/132
Chromosome9
Position2643480
GeneVLDLR
is asnp
is mentioned by
dbSNPrs80338907
ebirs80338907
HLIrs80338907
Exacrs80338907
Varsomers80338907
Maprs80338907
PheGenIrs80338907
hapmaprs80338907
1000 genomesrs80338907
hgdprs80338907
ensemblrs80338907
gopubmedrs80338907
geneviewrs80338907
scholarrs80338907
googlers80338907
pharmgkbrs80338907
gwascentralrs80338907
openSNPrs80338907
23andMers80338907
23andMe allrs80338907
SNP Nexus

SNPshotrs80338907
SNPdbers80338907
MSV3drs80338907
GWAS Ctlgrs80338907
Max Magnitude0
OMIM192977
Desc
Variant0002
Relatedalso
ClinVar
Risk rs80338907(T;T)
Alt rs80338907(T;T)
Reference rs80338907(C;C)
Significance Pathogenic
Disease Cerebellar ataxia and mental retardation with quadrupedal locomotion 1 Cerebellar ataxia
Variation info
Gene VLDLR
CLNDBN Cerebellar ataxia and mental retardation with quadrupedal locomotion 1 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1
Reversed 0
HGVS NC_000009.11:g.2643480C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012985.22, RCV000020557.1,


[PMID 18326629OA-icon.png] Mutations in the very low-density lipoprotein receptor VLDLR cause cerebellar hypoplasia and quadrupedal locomotion in humans.