rs80338906

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs80338906(-;-)

Make rs80338906(-;T)

Reference

GRCh37 37.1/132

Chromosome

9

Position

2651877

Gene

VLDLR

is a	snp
is	mentioned by
dbSNP	rs80338906
dbSNP (classic)	rs80338906
ClinGen	rs80338906
ebi	rs80338906
HLI	rs80338906
Exac	rs80338906
Gnomad	rs80338906
Varsome	rs80338906
LitVar	rs80338906
Map	rs80338906
PheGenI	rs80338906
Biobank	rs80338906
1000 genomes	rs80338906
hgdp	rs80338906
ensembl	rs80338906
geneview	rs80338906
scholar	rs80338906
google	rs80338906
pharmgkb	rs80338906
gwascentral	rs80338906
openSNP	rs80338906
23andMe	rs80338906
SNPshot	rs80338906
SNPdbe	rs80338906
MSV3d	rs80338906
GWAS Ctlg	rs80338906

Max Magnitude

0

OMIM	192977
Desc
Variant	0003
Related	also

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 18326629] 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.