rs387907373
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs387907373(G;T) |
Make rs387907373(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 30304718 |
Gene | NR0B1 |
is a | snp |
is | mentioned by |
dbSNP | rs387907373 |
dbSNP (classic) | rs387907373 |
ClinGen | rs387907373 |
ebi | rs387907373 |
HLI | rs387907373 |
Exac | rs387907373 |
Gnomad | rs387907373 |
Varsome | rs387907373 |
LitVar | rs387907373 |
Map | rs387907373 |
PheGenI | rs387907373 |
Biobank | rs387907373 |
1000 genomes | rs387907373 |
hgdp | rs387907373 |
ensembl | rs387907373 |
geneview | rs387907373 |
scholar | rs387907373 |
rs387907373 | |
pharmgkb | rs387907373 |
gwascentral | rs387907373 |
openSNP | rs387907373 |
23andMe | rs387907373 |
SNPshot | rs387907373 |
SNPdbe | rs387907373 |
MSV3d | rs387907373 |
GWAS Ctlg | rs387907373 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387907373(T;T) |
Alt | rs387907373(T;T) |
Reference | Rs387907373(G;G) |
Significance | Pathogenic |
Disease | Congenital adrenal hypoplasia |
Variation | info |
Gene | NR0B1 |
CLNDBN | Congenital adrenal hypoplasia, X-linked |
Reversed | 1 |
HGVS | NC_000023.10:g.30322835C>A |
CLNSRC | ClinVar |
CLNACC | RCV000049288.1, |