rs74315369
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6.2 | Hereditary PGL/PCC Syndrome |
Make rs74315369(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 17044882 |
Gene | SDHB |
is a | snp |
is | mentioned by |
dbSNP | rs74315369 |
dbSNP (classic) | rs74315369 |
ClinGen | rs74315369 |
ebi | rs74315369 |
HLI | rs74315369 |
Exac | rs74315369 |
Gnomad | rs74315369 |
Varsome | rs74315369 |
LitVar | rs74315369 |
Map | rs74315369 |
PheGenI | rs74315369 |
Biobank | rs74315369 |
1000 genomes | rs74315369 |
hgdp | rs74315369 |
ensembl | rs74315369 |
geneview | rs74315369 |
scholar | rs74315369 |
rs74315369 | |
pharmgkb | rs74315369 |
gwascentral | rs74315369 |
openSNP | rs74315369 |
23andMe | rs74315369 |
SNPshot | rs74315369 |
SNPdbe | rs74315369 |
MSV3d | rs74315369 |
GWAS Ctlg | rs74315369 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs74315369(G;G) rs74315369(T;T) |
Alt | rs74315369(G;G) rs74315369(T;T) |
Reference | Rs74315369(C;C) |
Significance | Pathogenic |
Disease | Paragangliomas 4 Pheochromocytoma Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor not specified |
Variation | info |
Gene | SDHB |
CLNDBN | Paragangliomas 4 Pheochromocytoma Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor not specified |
Reversed | 1 |
HGVS | NC_000001.10:g.17371377G>A; NC_000001.10:g.17371377G>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000013623.27, RCV000013624.20, RCV000129929.2, RCV000471400.1, RCV000148870.1, RCV000408969.1, RCV000455540.1, RCV000477264.1, RCV000492780.1, |