rs397514477
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs397514477(C;T) |
Make rs397514477(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 29708415 |
Gene | C19orf12 |
is a | snp |
is | mentioned by |
dbSNP | rs397514477 |
dbSNP (classic) | rs397514477 |
ClinGen | rs397514477 |
ebi | rs397514477 |
HLI | rs397514477 |
Exac | rs397514477 |
Gnomad | rs397514477 |
Varsome | rs397514477 |
LitVar | rs397514477 |
Map | rs397514477 |
PheGenI | rs397514477 |
Biobank | rs397514477 |
1000 genomes | rs397514477 |
hgdp | rs397514477 |
ensembl | rs397514477 |
geneview | rs397514477 |
scholar | rs397514477 |
rs397514477 | |
pharmgkb | rs397514477 |
gwascentral | rs397514477 |
openSNP | rs397514477 |
23andMe | rs397514477 |
SNPshot | rs397514477 |
SNPdbe | rs397514477 |
MSV3d | rs397514477 |
GWAS Ctlg | rs397514477 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397514477(T;T) |
Alt | rs397514477(T;T) |
Reference | Rs397514477(C;C) |
Significance | Pathogenic |
Disease | Neurodegeneration with brain iron accumulation 4 not provided |
Variation | info |
Gene | C19orf12 |
CLNDBN | Neurodegeneration with brain iron accumulation 4 not provided |
Reversed | 1 |
HGVS | NC_000019.9:g.30199322G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000024152.6, RCV000426086.1, |