rs74315370
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;G) | 6.2 | Hereditary PGL/PCC Syndrome |
(C;T) | 6.2 | Hereditary PGL/PCC Syndrome |
Make rs74315370(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 17044825 |
Gene | SDHB |
is a | snp |
is | mentioned by |
dbSNP | rs74315370 |
dbSNP (classic) | rs74315370 |
ClinGen | rs74315370 |
ebi | rs74315370 |
HLI | rs74315370 |
Exac | rs74315370 |
Gnomad | rs74315370 |
Varsome | rs74315370 |
LitVar | rs74315370 |
Map | rs74315370 |
PheGenI | rs74315370 |
Biobank | rs74315370 |
1000 genomes | rs74315370 |
hgdp | rs74315370 |
ensembl | rs74315370 |
geneview | rs74315370 |
scholar | rs74315370 |
rs74315370 | |
pharmgkb | rs74315370 |
gwascentral | rs74315370 |
openSNP | rs74315370 |
23andMe | rs74315370 |
SNPshot | rs74315370 |
SNPdbe | rs74315370 |
MSV3d | rs74315370 |
GWAS Ctlg | rs74315370 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs74315370(G;G) rs74315370(T;T) |
Alt | rs74315370(G;G) rs74315370(T;T) |
Reference | Rs74315370(C;C) |
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.17371320G>A; NC_000001.10:g.17371320G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000132150.4, RCV000183224.2, RCV000228450.2, RCV000013626.26, RCV000216404.2, |