rs587782703
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.2 | Hereditary PGL/PCC Syndrome |
(G;G) | 0 | common in clinvar |
Make rs587782703(G;T) |
Make rs587782703(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 17053947 |
Gene | SDHB |
is a | snp |
is | mentioned by |
dbSNP | rs587782703 |
dbSNP (classic) | rs587782703 |
ClinGen | rs587782703 |
ebi | rs587782703 |
HLI | rs587782703 |
Exac | rs587782703 |
Gnomad | rs587782703 |
Varsome | rs587782703 |
LitVar | rs587782703 |
Map | rs587782703 |
PheGenI | rs587782703 |
Biobank | rs587782703 |
1000 genomes | rs587782703 |
hgdp | rs587782703 |
ensembl | rs587782703 |
geneview | rs587782703 |
scholar | rs587782703 |
rs587782703 | |
pharmgkb | rs587782703 |
gwascentral | rs587782703 |
openSNP | rs587782703 |
23andMe | rs587782703 |
SNPshot | rs587782703 |
SNPdbe | rs587782703 |
MSV3d | rs587782703 |
GWAS Ctlg | rs587782703 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs587782703(T;T) |
Alt | rs587782703(T;T) |
Reference | Rs587782703(G;G) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome not provided Gastrointestinal stromal tumor Paragangliomas 4 Pheochromocytoma |
Variation | info |
Gene | SDHB |
CLNDBN | Hereditary cancer-predisposing syndrome not provided Gastrointestinal stromal tumor Paragangliomas 4 Pheochromocytoma |
Reversed | 1 |
HGVS | NC_000001.10:g.17380442C>A; NC_000001.10:g.17380442C>T |
CLNSRC | HGMD |
CLNACC | RCV000132151.4, RCV000153923.4, RCV000232241.2, RCV000492576.1, |