rs121434620
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121434620(C;T) |
Make rs121434620(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 50607876 |
Gene | SHROOM4 |
is a | snp |
is | mentioned by |
dbSNP | rs121434620 |
dbSNP (classic) | rs121434620 |
ClinGen | rs121434620 |
ebi | rs121434620 |
HLI | rs121434620 |
Exac | rs121434620 |
Gnomad | rs121434620 |
Varsome | rs121434620 |
LitVar | rs121434620 |
Map | rs121434620 |
PheGenI | rs121434620 |
Biobank | rs121434620 |
1000 genomes | rs121434620 |
hgdp | rs121434620 |
ensembl | rs121434620 |
geneview | rs121434620 |
scholar | rs121434620 |
rs121434620 | |
pharmgkb | rs121434620 |
gwascentral | rs121434620 |
openSNP | rs121434620 |
23andMe | rs121434620 |
SNPshot | rs121434620 |
SNPdbe | rs121434620 |
MSV3d | rs121434620 |
GWAS Ctlg | rs121434620 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121434620(T;T) |
Alt | rs121434620(T;T) |
Reference | Rs121434620(C;C) |
Significance | Pathogenic |
Disease | Stocco dos Santos syndrome |
Variation | info |
Gene | SHROOM4 |
CLNDBN | Stocco dos Santos syndrome |
Reversed | 1 |
HGVS | NC_000023.10:g.50350876G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000011542.7, |