rs387906724
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs387906724(C;T) |
Make rs387906724(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 77870885 |
Gene | MAGT1 |
is a | snp |
is | mentioned by |
dbSNP | rs387906724 |
dbSNP (classic) | rs387906724 |
ClinGen | rs387906724 |
ebi | rs387906724 |
HLI | rs387906724 |
Exac | rs387906724 |
Gnomad | rs387906724 |
Varsome | rs387906724 |
LitVar | rs387906724 |
Map | rs387906724 |
PheGenI | rs387906724 |
Biobank | rs387906724 |
1000 genomes | rs387906724 |
hgdp | rs387906724 |
ensembl | rs387906724 |
geneview | rs387906724 |
scholar | rs387906724 |
rs387906724 | |
pharmgkb | rs387906724 |
gwascentral | rs387906724 |
openSNP | rs387906724 |
23andMe | rs387906724 |
SNPshot | rs387906724 |
SNPdbe | rs387906724 |
MSV3d | rs387906724 |
GWAS Ctlg | rs387906724 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387906724(T;T) |
Alt | rs387906724(T;T) |
Reference | Rs387906724(C;C) |
Significance | Pathogenic |
Disease | Immunodeficiency not provided |
Variation | info |
Gene | MAGT1 |
CLNDBN | Immunodeficiency, X-Linked, with magnesium defect, Epstein-Barr virus infection, and neoplasia not provided |
Reversed | 1 |
HGVS | NC_000023.10:g.77126382G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000022874.7, RCV000489605.1, |