rs587782617
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;GGAGACAAAT) | 6.2 | Hereditary PGL/PCC Syndrome |
(GGAGACAAAT;GGAGACAAAT) | 0 | common in clinvar |
Make rs587782617(-;-) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 17023999 |
Gene | SDHB |
is a | snp |
is | mentioned by |
dbSNP | rs587782617 |
dbSNP (classic) | rs587782617 |
ClinGen | rs587782617 |
ebi | rs587782617 |
HLI | rs587782617 |
Exac | rs587782617 |
Gnomad | rs587782617 |
Varsome | rs587782617 |
LitVar | rs587782617 |
Map | rs587782617 |
PheGenI | rs587782617 |
Biobank | rs587782617 |
1000 genomes | rs587782617 |
hgdp | rs587782617 |
ensembl | rs587782617 |
geneview | rs587782617 |
scholar | rs587782617 |
rs587782617 | |
pharmgkb | rs587782617 |
gwascentral | rs587782617 |
openSNP | rs587782617 |
23andMe | rs587782617 |
SNPshot | rs587782617 |
SNPdbe | rs587782617 |
MSV3d | rs587782617 |
GWAS Ctlg | rs587782617 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs587782617(-;-) |
Alt | rs587782617(-;-) |
Reference | Rs587782617(GGAGACAAAT;GGAGACAAAT) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | SDHB |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000001.10:g.17350494_17350503delATTTGTCTCC |
CLNSRC | |
CLNACC | RCV000131995.2, |