rs864321639
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;TCTATCGAT) | 6.2 | Hereditary PGL/PCC Syndrome |
(TCTATCGAT;TCTATCGAT) | 0 | common in clinvar |
Make rs864321639(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 17044822 |
Gene | SDHB |
is a | snp |
is | mentioned by |
dbSNP | rs864321639 |
dbSNP (classic) | rs864321639 |
ClinGen | rs864321639 |
ebi | rs864321639 |
HLI | rs864321639 |
Exac | rs864321639 |
Gnomad | rs864321639 |
Varsome | rs864321639 |
LitVar | rs864321639 |
Map | rs864321639 |
PheGenI | rs864321639 |
Biobank | rs864321639 |
1000 genomes | rs864321639 |
hgdp | rs864321639 |
ensembl | rs864321639 |
geneview | rs864321639 |
scholar | rs864321639 |
rs864321639 | |
pharmgkb | rs864321639 |
gwascentral | rs864321639 |
openSNP | rs864321639 |
23andMe | rs864321639 |
SNPshot | rs864321639 |
SNPdbe | rs864321639 |
MSV3d | rs864321639 |
GWAS Ctlg | rs864321639 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs864321639(-;-) |
Alt | rs864321639(-;-) |
Reference | Rs864321639(TCTATCGAT;TCTATCGAT) |
Significance | Probable-Pathogenic |
Disease | Pheochromocytoma |
Variation | info |
Gene | SDHB |
CLNDBN | Pheochromocytoma |
Reversed | 1 |
HGVS | NC_000001.10:g.17371317_17371325delATCGATAGA |
CLNSRC | Seth G.S. Medical College and K.E.M. Hospital |
CLNACC | RCV000203529.1, |