rs772551056
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 6.2 | Hereditary PGL/PCC Syndrome |
(C;C) | 0 | common in clinvar |
Make rs772551056(C;T) |
Make rs772551056(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 17044824 |
Gene | SDHB |
is a | snp |
is | mentioned by |
dbSNP | rs772551056 |
dbSNP (classic) | rs772551056 |
ClinGen | rs772551056 |
ebi | rs772551056 |
HLI | rs772551056 |
Exac | rs772551056 |
Gnomad | rs772551056 |
Varsome | rs772551056 |
LitVar | rs772551056 |
Map | rs772551056 |
PheGenI | rs772551056 |
Biobank | rs772551056 |
1000 genomes | rs772551056 |
hgdp | rs772551056 |
ensembl | rs772551056 |
geneview | rs772551056 |
scholar | rs772551056 |
rs772551056 | |
pharmgkb | rs772551056 |
gwascentral | rs772551056 |
openSNP | rs772551056 |
23andMe | rs772551056 |
SNPshot | rs772551056 |
SNPdbe | rs772551056 |
MSV3d | rs772551056 |
GWAS Ctlg | rs772551056 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs772551056(A;A) rs772551056(T;T) |
Alt | rs772551056(A;A) rs772551056(T;T) |
Reference | Rs772551056(C;C) |
Significance | Pathogenic |
Disease | Gastrointestinal stromal tumor Paragangliomas 4 Pheochromocytoma Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | SDHB |
CLNDBN | Gastrointestinal stromal tumor Paragangliomas 4 Pheochromocytoma Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.17371319C>A; NC_000001.10:g.17371319C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000473045.1, RCV000162578.3, RCV000183217.3, RCV000232432.2, |