rs775146234
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs775146234(A;A) |
Make rs775146234(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 19 |
Position | 1105814 |
Gene | GPX4 |
is a | snp |
is | mentioned by |
dbSNP | rs775146234 |
dbSNP (classic) | rs775146234 |
ClinGen | rs775146234 |
ebi | rs775146234 |
HLI | rs775146234 |
Exac | rs775146234 |
Gnomad | rs775146234 |
Varsome | rs775146234 |
LitVar | rs775146234 |
Map | rs775146234 |
PheGenI | rs775146234 |
Biobank | rs775146234 |
1000 genomes | rs775146234 |
hgdp | rs775146234 |
ensembl | rs775146234 |
geneview | rs775146234 |
scholar | rs775146234 |
rs775146234 | |
pharmgkb | rs775146234 |
gwascentral | rs775146234 |
openSNP | rs775146234 |
23andMe | rs775146234 |
SNPshot | rs775146234 |
SNPdbe | rs775146234 |
MSV3d | rs775146234 |
GWAS Ctlg | rs775146234 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs775146234(A;A) |
Alt | rs775146234(A;A) |
Reference | Rs775146234(G;G) |
Significance | Pathogenic |
Disease | Spondylometaphyseal dysplasia Sedaghatian type |
Variation | info |
Gene | GPX4 |
CLNDBN | Spondylometaphyseal dysplasia Sedaghatian type |
Reversed | 0 |
HGVS | NC_000019.9:g.1105813G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000128831.4, |