rs727504457
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs727504457(C;C) |
Make rs727504457(C;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 17033086 |
Gene | SDHB |
is a | snp |
is | mentioned by |
dbSNP | rs727504457 |
dbSNP (classic) | rs727504457 |
ClinGen | rs727504457 |
ebi | rs727504457 |
HLI | rs727504457 |
Exac | rs727504457 |
Gnomad | rs727504457 |
Varsome | rs727504457 |
LitVar | rs727504457 |
Map | rs727504457 |
PheGenI | rs727504457 |
Biobank | rs727504457 |
1000 genomes | rs727504457 |
hgdp | rs727504457 |
ensembl | rs727504457 |
geneview | rs727504457 |
scholar | rs727504457 |
rs727504457 | |
pharmgkb | rs727504457 |
gwascentral | rs727504457 |
openSNP | rs727504457 |
23andMe | rs727504457 |
SNPshot | rs727504457 |
SNPdbe | rs727504457 |
MSV3d | rs727504457 |
GWAS Ctlg | rs727504457 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs727504457(C;C) |
Alt | rs727504457(C;C) |
Reference | Rs727504457(T;T) |
Significance | Probable-Pathogenic |
Disease | Hereditary Paraganglioma-Pheochromocytoma Syndromes |
Variation | info |
Gene | SDHB |
CLNDBN | Hereditary Paraganglioma-Pheochromocytoma Syndromes |
Reversed | 1 |
HGVS | NC_000001.10:g.17359581A>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000155443.1, |