rs786205345
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(ACTC;ACTC) | 0 | common in clinvar |
Make rs786205345(-;-) |
Make rs786205345(-;TCAC) |
Make rs786205345(TCAC;TCAC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 5 |
Position | 43644619 |
Gene | NNT |
is a | snp |
is | mentioned by |
dbSNP | rs786205345 |
dbSNP (classic) | rs786205345 |
ClinGen | rs786205345 |
ebi | rs786205345 |
HLI | rs786205345 |
Exac | rs786205345 |
Gnomad | rs786205345 |
Varsome | rs786205345 |
LitVar | rs786205345 |
Map | rs786205345 |
PheGenI | rs786205345 |
Biobank | rs786205345 |
1000 genomes | rs786205345 |
hgdp | rs786205345 |
ensembl | rs786205345 |
geneview | rs786205345 |
scholar | rs786205345 |
rs786205345 | |
pharmgkb | rs786205345 |
gwascentral | rs786205345 |
openSNP | rs786205345 |
23andMe | rs786205345 |
SNPshot | rs786205345 |
SNPdbe | rs786205345 |
MSV3d | rs786205345 |
GWAS Ctlg | rs786205345 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205345(-;-) |
Alt | rs786205345(-;-) |
Reference | Rs786205345(ACTC;ACTC) |
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.43644721_43644724delTCAC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000029196.5, |