rs45440292
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs45440292(C;T) |
Make rs45440292(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 65076071 |
Gene | MAX |
is a | snp |
is | mentioned by |
dbSNP | rs45440292 |
dbSNP (classic) | rs45440292 |
ClinGen | rs45440292 |
ebi | rs45440292 |
HLI | rs45440292 |
Exac | rs45440292 |
Gnomad | rs45440292 |
Varsome | rs45440292 |
LitVar | rs45440292 |
Map | rs45440292 |
PheGenI | rs45440292 |
Biobank | rs45440292 |
1000 genomes | rs45440292 |
hgdp | rs45440292 |
ensembl | rs45440292 |
geneview | rs45440292 |
scholar | rs45440292 |
rs45440292 | |
pharmgkb | rs45440292 |
gwascentral | rs45440292 |
openSNP | rs45440292 |
23andMe | rs45440292 |
SNPshot | rs45440292 |
SNPdbe | rs45440292 |
MSV3d | rs45440292 |
GWAS Ctlg | rs45440292 |
GMAF | 0.005051 |
Max Magnitude | 0 |
[PMID 23743562] MAX mutations status in Swedish patients with pheochromocytoma and paraganglioma tumours
ClinVar | |
---|---|
Risk | rs45440292(T;T) |
Alt | rs45440292(T;T) |
Reference | Rs45440292(C;C) |
Significance | Probable-non-pathogenic |
Disease | Pheochromocytoma |
Variation | info |
Gene | MAX |
CLNDBN | Pheochromocytoma |
Reversed | 0 |
HGVS | NC_000014.8:g.65542789C>T |
CLNSRC | |
CLNACC | RCV000272704.1, |