rs769967246
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs769967246(C;T) |
Make rs769967246(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 19 |
Position | 1105456 |
Gene | GPX4 |
is a | snp |
is | mentioned by |
dbSNP | rs769967246 |
dbSNP (classic) | rs769967246 |
ClinGen | rs769967246 |
ebi | rs769967246 |
HLI | rs769967246 |
Exac | rs769967246 |
Gnomad | rs769967246 |
Varsome | rs769967246 |
LitVar | rs769967246 |
Map | rs769967246 |
PheGenI | rs769967246 |
Biobank | rs769967246 |
1000 genomes | rs769967246 |
hgdp | rs769967246 |
ensembl | rs769967246 |
geneview | rs769967246 |
scholar | rs769967246 |
rs769967246 | |
pharmgkb | rs769967246 |
gwascentral | rs769967246 |
openSNP | rs769967246 |
23andMe | rs769967246 |
SNPshot | rs769967246 |
SNPdbe | rs769967246 |
MSV3d | rs769967246 |
GWAS Ctlg | rs769967246 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs769967246(A;A) rs769967246(T;T) |
Alt | rs769967246(A;A) rs769967246(T;T) |
Reference | Rs769967246(C;C) |
Significance | Pathogenic |
Disease | Spondylometaphyseal dysplasia Sedaghatian type |
Variation | info |
Gene | GPX4 |
CLNDBN | Spondylometaphyseal dysplasia Sedaghatian type |
Reversed | 0 |
HGVS | NC_000019.9:g.1105455C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000128833.4, |