rs794728948
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;TCTA) | 6.2 | Hereditary PGL/PCC Syndrome |
Make rs794728948(TCTA;TCTA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 17028689 |
Gene | SDHB |
is a | snp |
is | mentioned by |
dbSNP | rs794728948 |
dbSNP (classic) | rs794728948 |
ClinGen | rs794728948 |
ebi | rs794728948 |
HLI | rs794728948 |
Exac | rs794728948 |
Gnomad | rs794728948 |
Varsome | rs794728948 |
LitVar | rs794728948 |
Map | rs794728948 |
PheGenI | rs794728948 |
Biobank | rs794728948 |
1000 genomes | rs794728948 |
hgdp | rs794728948 |
ensembl | rs794728948 |
geneview | rs794728948 |
scholar | rs794728948 |
rs794728948 | |
pharmgkb | rs794728948 |
gwascentral | rs794728948 |
openSNP | rs794728948 |
23andMe | rs794728948 |
SNPshot | rs794728948 |
SNPdbe | rs794728948 |
MSV3d | rs794728948 |
GWAS Ctlg | rs794728948 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs794728948(TCTA;TCTA) |
Alt | rs794728948(TCTA;TCTA) |
Reference | Rs794728948(-;-) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | SDHB |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000001.10:g.17355185_17355188dupTAGA |
CLNSRC | |
CLNACC | RCV000183219.1, |