rs397516836
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 6.2 | Hereditary PGL/PCC Syndrome |
Make rs397516836(A;A) |
Make rs397516836(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 17024015 |
Gene | SDHB |
is a | snp |
is | mentioned by |
dbSNP | rs397516836 |
dbSNP (classic) | rs397516836 |
ClinGen | rs397516836 |
ebi | rs397516836 |
HLI | rs397516836 |
Exac | rs397516836 |
Gnomad | rs397516836 |
Varsome | rs397516836 |
LitVar | rs397516836 |
Map | rs397516836 |
PheGenI | rs397516836 |
Biobank | rs397516836 |
1000 genomes | rs397516836 |
hgdp | rs397516836 |
ensembl | rs397516836 |
geneview | rs397516836 |
scholar | rs397516836 |
rs397516836 | |
pharmgkb | rs397516836 |
gwascentral | rs397516836 |
openSNP | rs397516836 |
23andMe | rs397516836 |
SNPshot | rs397516836 |
SNPdbe | rs397516836 |
MSV3d | rs397516836 |
GWAS Ctlg | rs397516836 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs397516836(A;A) rs397516836(T;T) |
Alt | rs397516836(A;A) rs397516836(T;T) |
Reference | Rs397516836(G;G) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor Paragangliomas 4 Pheochromocytoma Hereditary Paraganglioma-Pheochromocytoma Syndromes |
Variation | info |
Gene | SDHB |
CLNDBN | Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor Paragangliomas 4 Pheochromocytoma Hereditary Paraganglioma-Pheochromocytoma Syndromes |
Reversed | 1 |
HGVS | NC_000001.10:g.17350510C>A; NC_000001.10:g.17350510C>T |
CLNSRC | ClinVar |
CLNACC | RCV000162460.3, RCV000462889.1, RCV000037723.2, RCV000492138.1, |