rs386134263
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs386134263(C;T) |
Make rs386134263(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 30308223 |
Gene | NR0B1 |
is a | snp |
is | mentioned by |
dbSNP | rs386134263 |
dbSNP (classic) | rs386134263 |
ClinGen | rs386134263 |
ebi | rs386134263 |
HLI | rs386134263 |
Exac | rs386134263 |
Gnomad | rs386134263 |
Varsome | rs386134263 |
LitVar | rs386134263 |
Map | rs386134263 |
PheGenI | rs386134263 |
Biobank | rs386134263 |
1000 genomes | rs386134263 |
hgdp | rs386134263 |
ensembl | rs386134263 |
geneview | rs386134263 |
scholar | rs386134263 |
rs386134263 | |
pharmgkb | rs386134263 |
gwascentral | rs386134263 |
openSNP | rs386134263 |
23andMe | rs386134263 |
SNPshot | rs386134263 |
SNPdbe | rs386134263 |
MSV3d | rs386134263 |
GWAS Ctlg | rs386134263 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs386134263(T;T) |
Alt | rs386134263(T;T) |
Reference | Rs386134263(C;C) |
Significance | Probable-Pathogenic |
Disease | Congenital adrenal hypoplasia |
Variation | info |
Gene | NR0B1 |
CLNDBN | Congenital adrenal hypoplasia, X-linked |
Reversed | 1 |
HGVS | NC_000023.10:g.30326340G>A |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000030344.1, |