rs80338907
From SNPedia
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 |
rs80338907 | |
pharmgkb | rs80338907 |
gwascentral | rs80338907 |
openSNP | rs80338907 |
23andMe | rs80338907 |
SNPshot | rs80338907 |
SNPdbe | rs80338907 |
MSV3d | rs80338907 |
GWAS Ctlg | rs80338907 |
Max Magnitude | 0 |
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.