rs104893913
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs104893913(A;A) |
Make rs104893913(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 143310135 |
Gene | NR3C1 |
is a | snp |
is | mentioned by |
dbSNP | rs104893913 |
dbSNP (classic) | rs104893913 |
ClinGen | rs104893913 |
ebi | rs104893913 |
HLI | rs104893913 |
Exac | rs104893913 |
Gnomad | rs104893913 |
Varsome | rs104893913 |
LitVar | rs104893913 |
Map | rs104893913 |
PheGenI | rs104893913 |
Biobank | rs104893913 |
1000 genomes | rs104893913 |
hgdp | rs104893913 |
ensembl | rs104893913 |
geneview | rs104893913 |
scholar | rs104893913 |
rs104893913 | |
pharmgkb | rs104893913 |
gwascentral | rs104893913 |
openSNP | rs104893913 |
23andMe | rs104893913 |
SNPshot | rs104893913 |
SNPdbe | rs104893913 |
MSV3d | rs104893913 |
GWAS Ctlg | rs104893913 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104893913(A;A) |
Alt | rs104893913(A;A) |
Reference | Rs104893913(G;G) |
Significance | Pathogenic |
Disease | Glucocorticoid resistance |
Variation | info |
Gene | NR3C1 |
CLNDBN | Glucocorticoid resistance, generalized |
Reversed | 1 |
HGVS | NC_000005.9:g.142689700C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000017539.29, |