rs74315368
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.2 | Hereditary PGL/PCC Syndrome |
(G;G) | 0 | common in clinvar |
Make rs74315368(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 17022648 |
Gene | SDHB |
is a | snp |
is | mentioned by |
dbSNP | rs74315368 |
dbSNP (classic) | rs74315368 |
ClinGen | rs74315368 |
ebi | rs74315368 |
HLI | rs74315368 |
Exac | rs74315368 |
Gnomad | rs74315368 |
Varsome | rs74315368 |
LitVar | rs74315368 |
Map | rs74315368 |
PheGenI | rs74315368 |
Biobank | rs74315368 |
1000 genomes | rs74315368 |
hgdp | rs74315368 |
ensembl | rs74315368 |
geneview | rs74315368 |
scholar | rs74315368 |
rs74315368 | |
pharmgkb | rs74315368 |
gwascentral | rs74315368 |
openSNP | rs74315368 |
23andMe | rs74315368 |
SNPshot | rs74315368 |
SNPdbe | rs74315368 |
MSV3d | rs74315368 |
GWAS Ctlg | rs74315368 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs74315368(A;A) |
Alt | rs74315368(A;A) |
Reference | Rs74315368(G;G) |
Significance | Pathogenic |
Disease | Paragangliomas 4 Pheochromocytoma Gastrointestinal stromal tumor Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | SDHB |
CLNDBN | Paragangliomas 4 Pheochromocytoma Gastrointestinal stromal tumor Hereditary cancer-predisposing syndrome not provided |
Reversed | 1 |
HGVS | NC_000001.10:g.17349143C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000013619.25, RCV000013620.25, RCV000022778.25, RCV000129095.4, RCV000183216.2, |