rs121908824
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121908824(C;T) |
Make rs121908824(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 96254962 |
Gene | TMEM127 |
is a | snp |
is | mentioned by |
dbSNP | rs121908824 |
dbSNP (classic) | rs121908824 |
ClinGen | rs121908824 |
ebi | rs121908824 |
HLI | rs121908824 |
Exac | rs121908824 |
Gnomad | rs121908824 |
Varsome | rs121908824 |
LitVar | rs121908824 |
Map | rs121908824 |
PheGenI | rs121908824 |
Biobank | rs121908824 |
1000 genomes | rs121908824 |
hgdp | rs121908824 |
ensembl | rs121908824 |
geneview | rs121908824 |
scholar | rs121908824 |
rs121908824 | |
pharmgkb | rs121908824 |
gwascentral | rs121908824 |
openSNP | rs121908824 |
23andMe | rs121908824 |
SNPshot | rs121908824 |
SNPdbe | rs121908824 |
MSV3d | rs121908824 |
GWAS Ctlg | rs121908824 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908824(A;A) rs121908824(G;G) rs121908824(T;T) |
Alt | rs121908824(A;A) rs121908824(G;G) rs121908824(T;T) |
Reference | Rs121908824(C;C) |
Significance | Probable-Pathogenic |
Disease | Pheochromocytoma Hereditary Paraganglioma-Pheochromocytoma Syndromes |
Variation | info |
Gene | TMEM127 |
CLNDBN | Pheochromocytoma Hereditary Paraganglioma-Pheochromocytoma Syndromes |
Reversed | 1 |
HGVS | NC_000002.11:g.96920700G>A; NC_000002.11:g.96920700G>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000114826.1, RCV000229383.2, RCV000460622.1, |
[PMID 21156949] Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas.