rs80338907

Orientation

plus

Stabilized

plus

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

Make rs80338907(C;T)

Make rs80338907(T;T)

Reference

GRCh37 37.1/132

Chromosome

9

Position

2643480

Gene

VLDLR

is a	snp
is	mentioned by
dbSNP	rs80338907
dbSNP (classic)	rs80338907
ClinGen	rs80338907
ebi	rs80338907
HLI	rs80338907
Exac	rs80338907
Gnomad	rs80338907
Varsome	rs80338907
LitVar	rs80338907
Map	rs80338907
PheGenI	rs80338907
Biobank	rs80338907
1000 genomes	rs80338907
hgdp	rs80338907
ensembl	rs80338907
geneview	rs80338907
scholar	rs80338907
google	rs80338907
pharmgkb	rs80338907
gwascentral	rs80338907
openSNP	rs80338907
23andMe	rs80338907
SNPshot	rs80338907
SNPdbe	rs80338907
MSV3d	rs80338907
GWAS Ctlg	rs80338907

Max Magnitude

0

OMIM	192977
Desc
Variant	0002
Related	also

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