rs121908818
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.2 | Hereditary PGL/PCC Syndrome |
(G;G) | 0 | common in clinvar |
Make rs121908818(C;C) |
Make rs121908818(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 96265224 |
Gene | CIAO1, TMEM127 |
is a | snp |
is | mentioned by |
dbSNP | rs121908818 |
dbSNP (classic) | rs121908818 |
ClinGen | rs121908818 |
ebi | rs121908818 |
HLI | rs121908818 |
Exac | rs121908818 |
Gnomad | rs121908818 |
Varsome | rs121908818 |
LitVar | rs121908818 |
Map | rs121908818 |
PheGenI | rs121908818 |
Biobank | rs121908818 |
1000 genomes | rs121908818 |
hgdp | rs121908818 |
ensembl | rs121908818 |
geneview | rs121908818 |
scholar | rs121908818 |
rs121908818 | |
pharmgkb | rs121908818 |
gwascentral | rs121908818 |
openSNP | rs121908818 |
23andMe | rs121908818 |
SNPshot | rs121908818 |
SNPdbe | rs121908818 |
MSV3d | rs121908818 |
GWAS Ctlg | rs121908818 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs121908818(C;C) |
Alt | rs121908818(C;C) |
Reference | Rs121908818(G;G) |
Significance | Probable-Pathogenic |
Disease | Pheochromocytoma |
Variation | info |
Gene | TMEM127 CIAO1 |
CLNDBN | Pheochromocytoma |
Reversed | 1 |
HGVS | NC_000002.11:g.96930962C>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000114821.1, |
[PMID 21156949] Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.