rs398122380
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GTTACAA;GTTACAA) | 0 | common in clinvar |
Make rs398122380(-;-) |
Make rs398122380(-;GTTACAA) |
Reference | GRCh37.p10 37.5/138 |
Chromosome | 9 |
Position | 2645017 |
Gene | VLDLR |
is a | snp |
is | mentioned by |
dbSNP | rs398122380 |
dbSNP (classic) | rs398122380 |
ClinGen | rs398122380 |
ebi | rs398122380 |
HLI | rs398122380 |
Exac | rs398122380 |
Gnomad | rs398122380 |
Varsome | rs398122380 |
LitVar | rs398122380 |
Map | rs398122380 |
PheGenI | rs398122380 |
Biobank | rs398122380 |
1000 genomes | rs398122380 |
hgdp | rs398122380 |
ensembl | rs398122380 |
geneview | rs398122380 |
scholar | rs398122380 |
rs398122380 | |
pharmgkb | rs398122380 |
gwascentral | rs398122380 |
openSNP | rs398122380 |
23andMe | rs398122380 |
SNPshot | rs398122380 |
SNPdbe | rs398122380 |
MSV3d | rs398122380 |
GWAS Ctlg | rs398122380 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122380(-;-) |
Alt | rs398122380(-;-) |
Reference | Rs398122380(GTTACAA;GTTACAA) |
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.2645017_2645023delGTTACAA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000049269.27, |