rs398122805
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.2 | Hereditary PGL/PCC Syndrome |
(C;G) | 6.2 | Hereditary PGL/PCC Syndrome |
(G;G) | 0 | common in clinvar |
Make rs398122805(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 17028599 |
Gene | SDHB |
is a | snp |
is | mentioned by |
dbSNP | rs398122805 |
dbSNP (classic) | rs398122805 |
ClinGen | rs398122805 |
ebi | rs398122805 |
HLI | rs398122805 |
Exac | rs398122805 |
Gnomad | rs398122805 |
Varsome | rs398122805 |
LitVar | rs398122805 |
Map | rs398122805 |
PheGenI | rs398122805 |
Biobank | rs398122805 |
1000 genomes | rs398122805 |
hgdp | rs398122805 |
ensembl | rs398122805 |
geneview | rs398122805 |
scholar | rs398122805 |
rs398122805 | |
pharmgkb | rs398122805 |
gwascentral | rs398122805 |
openSNP | rs398122805 |
23andMe | rs398122805 |
SNPshot | rs398122805 |
SNPdbe | rs398122805 |
MSV3d | rs398122805 |
GWAS Ctlg | rs398122805 |
Max Magnitude | 6.2 |
aka c.423+1G>A
ClinVar | |
---|---|
Risk | rs398122805(A;A) |
Alt | rs398122805(A;A) |
Reference | Rs398122805(G;G) |
Significance | Pathogenic |
Disease | Paragangliomas 4 Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor Pheochromocytoma not provided |
Variation | info |
Gene | SDHB |
CLNDBN | Paragangliomas 4 Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor Pheochromocytoma not provided |
Reversed | 1 |
HGVS | NC_000001.10:g.17355094C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000022779.25, RCV000163600.3, RCV000226963.2, RCV000481826.1, |