rs786203506
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 6.2 | Hereditary PGL/PCC Syndrome |
(C;C) | 0 | common in clinvar |
(C;G) | 6.2 | Hereditary PGL/PCC Syndrome |
Make rs786203506(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 17028649 |
Gene | SDHB |
is a | snp |
is | mentioned by |
dbSNP | rs786203506 |
dbSNP (classic) | rs786203506 |
ClinGen | rs786203506 |
ebi | rs786203506 |
HLI | rs786203506 |
Exac | rs786203506 |
Gnomad | rs786203506 |
Varsome | rs786203506 |
LitVar | rs786203506 |
Map | rs786203506 |
PheGenI | rs786203506 |
Biobank | rs786203506 |
1000 genomes | rs786203506 |
hgdp | rs786203506 |
ensembl | rs786203506 |
geneview | rs786203506 |
scholar | rs786203506 |
rs786203506 | |
pharmgkb | rs786203506 |
gwascentral | rs786203506 |
openSNP | rs786203506 |
23andMe | rs786203506 |
SNPshot | rs786203506 |
SNPdbe | rs786203506 |
MSV3d | rs786203506 |
GWAS Ctlg | rs786203506 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs786203506(A;A) rs786203506(G;G) |
Alt | rs786203506(A;A) rs786203506(G;G) |
Reference | Rs786203506(C;C) |
Significance | 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.17355144G>C; NC_000001.10:g.17355144G>T |
CLNSRC | |
CLNACC | RCV000456990.1, RCV000166840.2, |