rs370273690
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs370273690(C;C) |
Make rs370273690(C;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 5 |
Position | 43702652 |
Gene | NNT |
is a | snp |
is | mentioned by |
dbSNP | rs370273690 |
dbSNP (classic) | rs370273690 |
ClinGen | rs370273690 |
ebi | rs370273690 |
HLI | rs370273690 |
Exac | rs370273690 |
Gnomad | rs370273690 |
Varsome | rs370273690 |
LitVar | rs370273690 |
Map | rs370273690 |
PheGenI | rs370273690 |
Biobank | rs370273690 |
1000 genomes | rs370273690 |
hgdp | rs370273690 |
ensembl | rs370273690 |
geneview | rs370273690 |
scholar | rs370273690 |
rs370273690 | |
pharmgkb | rs370273690 |
gwascentral | rs370273690 |
openSNP | rs370273690 |
23andMe | rs370273690 |
SNPshot | rs370273690 |
SNPdbe | rs370273690 |
MSV3d | rs370273690 |
GWAS Ctlg | rs370273690 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs370273690(C;C) rs370273690(G;G) |
Alt | rs370273690(C;C) rs370273690(G;G) |
Reference | Rs370273690(T;T) |
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.43702754T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000029197.4, |