rs587781266
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;CTCT) | 6.2 | Hereditary PGL/PCC Syndrome |
(CTCT;CTCT) | 0 | common in clinvar |
Make rs587781266(-;-) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 17022654 |
Gene | SDHB |
is a | snp |
is | mentioned by |
dbSNP | rs587781266 |
dbSNP (classic) | rs587781266 |
ClinGen | rs587781266 |
ebi | rs587781266 |
HLI | rs587781266 |
Exac | rs587781266 |
Gnomad | rs587781266 |
Varsome | rs587781266 |
LitVar | rs587781266 |
Map | rs587781266 |
PheGenI | rs587781266 |
Biobank | rs587781266 |
1000 genomes | rs587781266 |
hgdp | rs587781266 |
ensembl | rs587781266 |
geneview | rs587781266 |
scholar | rs587781266 |
rs587781266 | |
pharmgkb | rs587781266 |
gwascentral | rs587781266 |
openSNP | rs587781266 |
23andMe | rs587781266 |
SNPshot | rs587781266 |
SNPdbe | rs587781266 |
MSV3d | rs587781266 |
GWAS Ctlg | rs587781266 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs587781266(-;-) |
Alt | rs587781266(-;-) |
Reference | Rs587781266(CTCT;CTCT) |
Significance | Pathogenic |
Disease | Paragangliomas 4 Pheochromocytoma Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | SDHB |
CLNDBN | Paragangliomas 4 Pheochromocytoma Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000001.10:g.17349149_17349152delAGAG |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000013621.24, RCV000013622.24, RCV000128877.3, |