rs398122409
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GGG;GGG) | 0 | common in clinvar |
Make rs398122409(-;-) |
Make rs398122409(-;GGG) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 29702972 |
Gene | C19orf12 |
is a | snp |
is | mentioned by |
dbSNP | rs398122409 |
dbSNP (classic) | rs398122409 |
ClinGen | rs398122409 |
ebi | rs398122409 |
HLI | rs398122409 |
Exac | rs398122409 |
Gnomad | rs398122409 |
Varsome | rs398122409 |
LitVar | rs398122409 |
Map | rs398122409 |
PheGenI | rs398122409 |
Biobank | rs398122409 |
1000 genomes | rs398122409 |
hgdp | rs398122409 |
ensembl | rs398122409 |
geneview | rs398122409 |
scholar | rs398122409 |
rs398122409 | |
pharmgkb | rs398122409 |
gwascentral | rs398122409 |
openSNP | rs398122409 |
23andMe | rs398122409 |
SNPshot | rs398122409 |
SNPdbe | rs398122409 |
MSV3d | rs398122409 |
GWAS Ctlg | rs398122409 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs398122409(-;-) |
Alt | rs398122409(-;-) |
Reference | Rs398122409(GGG;GGG) |
Significance | Pathogenic |
Disease | Neurodegeneration with brain iron accumulation 4 |
Variation | info |
Gene | C19orf12 |
CLNDBN | Neurodegeneration with brain iron accumulation 4 |
Reversed | 1 |
HGVS | NC_000019.9:g.30193879_30193881delCCC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000074455.4, |