rs28935477
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(G;G) | 0 |
Make rs28935477(C;T) |
Make rs28935477(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 49251441 |
Gene | FOXP3 |
is a | snp |
is | mentioned by |
dbSNP | rs28935477 |
dbSNP (classic) | rs28935477 |
ClinGen | rs28935477 |
ebi | rs28935477 |
HLI | rs28935477 |
Exac | rs28935477 |
Gnomad | rs28935477 |
Varsome | rs28935477 |
LitVar | rs28935477 |
Map | rs28935477 |
PheGenI | rs28935477 |
Biobank | rs28935477 |
1000 genomes | rs28935477 |
hgdp | rs28935477 |
ensembl | rs28935477 |
geneview | rs28935477 |
scholar | rs28935477 |
rs28935477 | |
pharmgkb | rs28935477 |
gwascentral | rs28935477 |
openSNP | rs28935477 |
23andMe | rs28935477 |
SNPshot | rs28935477 |
SNPdbe | rs28935477 |
MSV3d | rs28935477 |
GWAS Ctlg | rs28935477 |
Max Magnitude | 0 |
OMIM | 300292 |
Desc | IMMUNODYSREGULATION, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED |
Variant | 0001 |
Related | also |
ClinVar | |
---|---|
Risk | rs28935477(T;T) |
Alt | rs28935477(T;T) |
Reference | Rs28935477(C;C) |
Significance | Pathogenic |
Disease | Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
Variation | info |
Gene | FOXP3 |
CLNDBN | Insulin-dependent diabetes mellitus secretory diarrhea syndrome |
Reversed | 1 |
HGVS | NC_000023.10:g.49107902G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000012160.2, |