rs104894896
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs104894896(G;T) |
Make rs104894896(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 30308218 |
Gene | NR0B1 |
is a | snp |
is | mentioned by |
dbSNP | rs104894896 |
dbSNP (classic) | rs104894896 |
ClinGen | rs104894896 |
ebi | rs104894896 |
HLI | rs104894896 |
Exac | rs104894896 |
Gnomad | rs104894896 |
Varsome | rs104894896 |
LitVar | rs104894896 |
Map | rs104894896 |
PheGenI | rs104894896 |
Biobank | rs104894896 |
1000 genomes | rs104894896 |
hgdp | rs104894896 |
ensembl | rs104894896 |
geneview | rs104894896 |
scholar | rs104894896 |
rs104894896 | |
pharmgkb | rs104894896 |
gwascentral | rs104894896 |
openSNP | rs104894896 |
23andMe | rs104894896 |
SNPshot | rs104894896 |
SNPdbe | rs104894896 |
MSV3d | rs104894896 |
GWAS Ctlg | rs104894896 |
Merged from | Rs28935180 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894896(T;T) |
Alt | rs104894896(T;T) |
Reference | Rs104894896(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.30326335C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000011711.5, |