rs587782243
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.2 | Hereditary PGL/PCC Syndrome |
(G;G) | 0 | common in clinvar |
Make rs587782243(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 17033060 |
Gene | SDHB |
is a | snp |
is | mentioned by |
dbSNP | rs587782243 |
dbSNP (classic) | rs587782243 |
ClinGen | rs587782243 |
ebi | rs587782243 |
HLI | rs587782243 |
Exac | rs587782243 |
Gnomad | rs587782243 |
Varsome | rs587782243 |
LitVar | rs587782243 |
Map | rs587782243 |
PheGenI | rs587782243 |
Biobank | rs587782243 |
1000 genomes | rs587782243 |
hgdp | rs587782243 |
ensembl | rs587782243 |
geneview | rs587782243 |
scholar | rs587782243 |
rs587782243 | |
pharmgkb | rs587782243 |
gwascentral | rs587782243 |
openSNP | rs587782243 |
23andMe | rs587782243 |
SNPshot | rs587782243 |
SNPdbe | rs587782243 |
MSV3d | rs587782243 |
GWAS Ctlg | rs587782243 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs587782243(A;A) |
Alt | rs587782243(A;A) |
Reference | Rs587782243(G;G) |
Significance | Probable-Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor Paragangliomas 4 Pheochromocytoma not provided |
Variation | info |
Gene | SDHB |
CLNDBN | Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor Paragangliomas 4 Pheochromocytoma not provided |
Reversed | 1 |
HGVS | NC_000001.10:g.17359555C>T |
CLNSRC | |
CLNACC | RCV000130946.4, RCV000459169.1, RCV000489952.1, |