rs1957949
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs1957949(A;A) |
Make rs1957949(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 65075889 |
Gene | MAX |
is a | snp |
is | mentioned by |
dbSNP | rs1957949 |
dbSNP (classic) | rs1957949 |
ClinGen | rs1957949 |
ebi | rs1957949 |
HLI | rs1957949 |
Exac | rs1957949 |
Gnomad | rs1957949 |
Varsome | rs1957949 |
LitVar | rs1957949 |
Map | rs1957949 |
PheGenI | rs1957949 |
Biobank | rs1957949 |
1000 genomes | rs1957949 |
hgdp | rs1957949 |
ensembl | rs1957949 |
geneview | rs1957949 |
scholar | rs1957949 |
rs1957949 | |
pharmgkb | rs1957949 |
gwascentral | rs1957949 |
openSNP | rs1957949 |
23andMe | rs1957949 |
SNPshot | rs1957949 |
SNPdbe | rs1957949 |
MSV3d | rs1957949 |
GWAS Ctlg | rs1957949 |
GMAF | 0.4945 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
[PMID 23743562] MAX mutations status in Swedish patients with pheochromocytoma and paraganglioma tumours
ClinVar | |
---|---|
Risk | rs1957949(A;A) |
Alt | rs1957949(A;A) |
Reference | Rs1957949(G;G) |
Significance | Non-pathogenic |
Disease | Pheochromocytoma |
Variation | info |
Gene | MAX |
CLNDBN | Pheochromocytoma |
Reversed | 1 |
HGVS | NC_000014.8:g.65542607C>T |
CLNSRC | |
CLNACC | RCV000313362.1, |