rs387907234
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs387907234(C;C) |
Make rs387907234(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 43702647 |
Gene | NNT |
is a | snp |
is | mentioned by |
dbSNP | rs387907234 |
dbSNP (classic) | rs387907234 |
ClinGen | rs387907234 |
ebi | rs387907234 |
HLI | rs387907234 |
Exac | rs387907234 |
Gnomad | rs387907234 |
Varsome | rs387907234 |
LitVar | rs387907234 |
Map | rs387907234 |
PheGenI | rs387907234 |
Biobank | rs387907234 |
1000 genomes | rs387907234 |
hgdp | rs387907234 |
ensembl | rs387907234 |
geneview | rs387907234 |
scholar | rs387907234 |
rs387907234 | |
pharmgkb | rs387907234 |
gwascentral | rs387907234 |
openSNP | rs387907234 |
23andMe | rs387907234 |
SNPshot | rs387907234 |
SNPdbe | rs387907234 |
MSV3d | rs387907234 |
GWAS Ctlg | rs387907234 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs387907234(C;C) |
Alt | rs387907234(C;C) |
Reference | Rs387907234(G;G) |
Significance | Pathogenic |
Disease | Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency |
Variation | info |
Gene | NNT |
CLNDBN | Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency |
Reversed | 0 |
HGVS | NC_000005.9:g.43702749G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000029198.4, |