rs121913664
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121913664(A;A) |
Make rs121913664(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 35404613 |
Gene | NFKBIA |
is a | snp |
is | mentioned by |
dbSNP | rs121913664 |
dbSNP (classic) | rs121913664 |
ClinGen | rs121913664 |
ebi | rs121913664 |
HLI | rs121913664 |
Exac | rs121913664 |
Gnomad | rs121913664 |
Varsome | rs121913664 |
LitVar | rs121913664 |
Map | rs121913664 |
PheGenI | rs121913664 |
Biobank | rs121913664 |
1000 genomes | rs121913664 |
hgdp | rs121913664 |
ensembl | rs121913664 |
geneview | rs121913664 |
scholar | rs121913664 |
rs121913664 | |
pharmgkb | rs121913664 |
gwascentral | rs121913664 |
openSNP | rs121913664 |
23andMe | rs121913664 |
SNPshot | rs121913664 |
SNPdbe | rs121913664 |
MSV3d | rs121913664 |
GWAS Ctlg | rs121913664 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121913664(A;A) |
Alt | rs121913664(A;A) |
Reference | Rs121913664(G;G) |
Significance | Pathogenic |
Disease | Ectodermal dysplasia |
Variation | info |
Gene | NFKBIA |
CLNDBN | Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency, autosomal dominant |
Reversed | 1 |
HGVS | NC_000014.8:g.35873819C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000015041.25, |