rs397514750
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs397514750(G;T) |
Make rs397514750(T;T) |
Reference | GRCh37.p10 37.5/138 |
Chromosome | 9 |
Position | 2650382 |
Gene | VLDLR |
is a | snp |
is | mentioned by |
dbSNP | rs397514750 |
dbSNP (classic) | rs397514750 |
ClinGen | rs397514750 |
ebi | rs397514750 |
HLI | rs397514750 |
Exac | rs397514750 |
Gnomad | rs397514750 |
Varsome | rs397514750 |
LitVar | rs397514750 |
Map | rs397514750 |
PheGenI | rs397514750 |
Biobank | rs397514750 |
1000 genomes | rs397514750 |
hgdp | rs397514750 |
ensembl | rs397514750 |
geneview | rs397514750 |
scholar | rs397514750 |
rs397514750 | |
pharmgkb | rs397514750 |
gwascentral | rs397514750 |
openSNP | rs397514750 |
23andMe | rs397514750 |
SNPshot | rs397514750 |
SNPdbe | rs397514750 |
MSV3d | rs397514750 |
GWAS Ctlg | rs397514750 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397514750(T;T) |
Alt | rs397514750(T;T) |
Reference | Rs397514750(G;G) |
Significance | Pathogenic |
Disease | Cerebellar ataxia |
Variation | info |
Gene | VLDLR |
CLNDBN | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 |
Reversed | 0 |
HGVS | NC_000009.11:g.2650382G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000054559.19, |