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rs80338906

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80338906(-;-)
Make rs80338906(-;T)
ReferenceGRCh37 37.1/132
Chromosome9
Position2651877
GeneVLDLR
is asnp
is mentioned by
dbSNPrs80338906
ebirs80338906
HLIrs80338906
Exacrs80338906
Varsomers80338906
Maprs80338906
PheGenIrs80338906
hapmaprs80338906
1000 genomesrs80338906
hgdprs80338906
ensemblrs80338906
gopubmedrs80338906
geneviewrs80338906
scholarrs80338906
googlers80338906
pharmgkbrs80338906
gwascentralrs80338906
openSNPrs80338906
23andMers80338906
23andMe allrs80338906
SNP Nexus

SNPshotrs80338906
SNPdbers80338906
MSV3drs80338906
GWAS Ctlgrs80338906
Max Magnitude0
OMIM192977
Desc
Variant0003
Relatedalso
ClinVar
Risk rs80338906(;)
Alt rs80338906(;)
Reference rs80338906(T;T)
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.2651877delT
CLNSRC OMIM Allelic Variant
CLNACC RCV000012986.20, RCV000020556.1,


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


[PMID 18364738] Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene.