rs876659329
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;T) | 6.2 | Hereditary PGL/PCC Syndrome |
(T;T) | 0 | common in clinvar |
Make rs876659329(A;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 17044767 |
Gene | SDHB |
is a | snp |
is | mentioned by |
dbSNP | rs876659329 |
dbSNP (classic) | rs876659329 |
ClinGen | rs876659329 |
ebi | rs876659329 |
HLI | rs876659329 |
Exac | rs876659329 |
Gnomad | rs876659329 |
Varsome | rs876659329 |
LitVar | rs876659329 |
Map | rs876659329 |
PheGenI | rs876659329 |
Biobank | rs876659329 |
1000 genomes | rs876659329 |
hgdp | rs876659329 |
ensembl | rs876659329 |
geneview | rs876659329 |
scholar | rs876659329 |
rs876659329 | |
pharmgkb | rs876659329 |
gwascentral | rs876659329 |
openSNP | rs876659329 |
23andMe | rs876659329 |
SNPshot | rs876659329 |
SNPdbe | rs876659329 |
MSV3d | rs876659329 |
GWAS Ctlg | rs876659329 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs876659329(A;A) rs876659329(C;C) |
Alt | rs876659329(A;A) rs876659329(C;C) |
Reference | Rs876659329(T;T) |
Significance | Probable-Pathogenic |
Disease | Gastrointestinal stromal tumor Paragangliomas 4 Pheochromocytoma Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | SDHB |
CLNDBN | Gastrointestinal stromal tumor Paragangliomas 4 Pheochromocytoma Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000001.10:g.17371262A>G; NC_000001.10:g.17371262A>T |
CLNSRC | |
CLNACC | RCV000458678.1, RCV000217113.2, |