rs751000085
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.2 | Hereditary PGL/PCC Syndrome |
(G;G) | 0 | common in clinvar |
Make rs751000085(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 17028680 |
Gene | SDHB |
is a | snp |
is | mentioned by |
dbSNP | rs751000085 |
dbSNP (classic) | rs751000085 |
ClinGen | rs751000085 |
ebi | rs751000085 |
HLI | rs751000085 |
Exac | rs751000085 |
Gnomad | rs751000085 |
Varsome | rs751000085 |
LitVar | rs751000085 |
Map | rs751000085 |
PheGenI | rs751000085 |
Biobank | rs751000085 |
1000 genomes | rs751000085 |
hgdp | rs751000085 |
ensembl | rs751000085 |
geneview | rs751000085 |
scholar | rs751000085 |
rs751000085 | |
pharmgkb | rs751000085 |
gwascentral | rs751000085 |
openSNP | rs751000085 |
23andMe | rs751000085 |
SNPshot | rs751000085 |
SNPdbe | rs751000085 |
MSV3d | rs751000085 |
GWAS Ctlg | rs751000085 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs751000085(A;A) |
Alt | rs751000085(A;A) |
Reference | Rs751000085(G;G) |
Significance | Pathogenic |
Disease | Pheochromocytoma Paragangliomas 4 |
Variation | info |
Gene | SDHB |
CLNDBN | Pheochromocytoma Paragangliomas 4 |
Reversed | 0 |
HGVS | NC_000001.10:g.17355175G>A |
CLNSRC | |
CLNACC | RCV000178185.1, RCV000178186.1, |