rs878854594
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6.2 | Hereditary PGL/PCC Syndrome |
Make rs878854594(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 112094851 |
Gene | SDHD |
is a | snp |
is | mentioned by |
dbSNP | rs878854594 |
dbSNP (classic) | rs878854594 |
ClinGen | rs878854594 |
ebi | rs878854594 |
HLI | rs878854594 |
Exac | rs878854594 |
Gnomad | rs878854594 |
Varsome | rs878854594 |
LitVar | rs878854594 |
Map | rs878854594 |
PheGenI | rs878854594 |
Biobank | rs878854594 |
1000 genomes | rs878854594 |
hgdp | rs878854594 |
ensembl | rs878854594 |
geneview | rs878854594 |
scholar | rs878854594 |
rs878854594 | |
pharmgkb | rs878854594 |
gwascentral | rs878854594 |
openSNP | rs878854594 |
23andMe | rs878854594 |
SNPshot | rs878854594 |
SNPdbe | rs878854594 |
MSV3d | rs878854594 |
GWAS Ctlg | rs878854594 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs878854594(T;T) |
Alt | rs878854594(T;T) |
Reference | Rs878854594(C;C) |
Significance | Probable-Pathogenic |
Disease | Paraganglioma and gastric stromal sarcoma Paragangliomas 1 Pheochromocytoma |
Variation | info |
Gene | SDHD |
CLNDBN | Paraganglioma and gastric stromal sarcoma Paragangliomas 1 Pheochromocytoma |
Reversed | 0 |
HGVS | NC_000011.9:g.111965575C>T |
CLNSRC | |
CLNACC | RCV000226232.1, |