rs104894118
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs104894118(G;T) |
Make rs104894118(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 9 |
Position | 124500196 |
Gene | NR5A1 |
is a | snp |
is | mentioned by |
dbSNP | rs104894118 |
dbSNP (classic) | rs104894118 |
ClinGen | rs104894118 |
ebi | rs104894118 |
HLI | rs104894118 |
Exac | rs104894118 |
Gnomad | rs104894118 |
Varsome | rs104894118 |
LitVar | rs104894118 |
Map | rs104894118 |
PheGenI | rs104894118 |
Biobank | rs104894118 |
1000 genomes | rs104894118 |
hgdp | rs104894118 |
ensembl | rs104894118 |
geneview | rs104894118 |
scholar | rs104894118 |
rs104894118 | |
pharmgkb | rs104894118 |
gwascentral | rs104894118 |
openSNP | rs104894118 |
23andMe | rs104894118 |
SNPshot | rs104894118 |
SNPdbe | rs104894118 |
MSV3d | rs104894118 |
GWAS Ctlg | rs104894118 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894118(A;A) rs104894118(T;T) |
Alt | rs104894118(A;A) rs104894118(T;T) |
Reference | Rs104894118(G;G) |
Significance | Pathogenic |
Disease | ADRENAL INSUFFICIENCY |
Variation | info |
Gene | NR5A1 |
CLNDBN | ADRENAL INSUFFICIENCY, NR5A1-RELATED |
Reversed | 1 |
HGVS | NC_000009.11:g.127262475C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013639.18, |