rs104894562
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs104894562(C;T) |
Make rs104894562(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 28529157 |
Gene | FOXN1 |
is a | snp |
is | mentioned by |
dbSNP | rs104894562 |
dbSNP (classic) | rs104894562 |
ClinGen | rs104894562 |
ebi | rs104894562 |
HLI | rs104894562 |
Exac | rs104894562 |
Gnomad | rs104894562 |
Varsome | rs104894562 |
LitVar | rs104894562 |
Map | rs104894562 |
PheGenI | rs104894562 |
Biobank | rs104894562 |
1000 genomes | rs104894562 |
hgdp | rs104894562 |
ensembl | rs104894562 |
geneview | rs104894562 |
scholar | rs104894562 |
rs104894562 | |
pharmgkb | rs104894562 |
gwascentral | rs104894562 |
openSNP | rs104894562 |
23andMe | rs104894562 |
SNPshot | rs104894562 |
SNPdbe | rs104894562 |
MSV3d | rs104894562 |
GWAS Ctlg | rs104894562 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894562(T;T) |
Alt | rs104894562(T;T) |
Reference | Rs104894562(C;C) |
Significance | Pathogenic |
Disease | T-cell immunodeficiency |
Variation | info |
Gene | FOXN1 |
CLNDBN | T-cell immunodeficiency, congenital alopecia and nail dystrophy |
Reversed | 0 |
HGVS | NC_000017.10:g.26856175C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009300.3, |