rs794728949
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;G) | 6.2 | Hereditary PGL/PCC Syndrome |
(G;G) | 0 | common in clinvar |
Make rs794728949(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 1 |
Position | 17027808 |
Gene | SDHB |
is a | snp |
is | mentioned by |
dbSNP | rs794728949 |
dbSNP (classic) | rs794728949 |
ClinGen | rs794728949 |
ebi | rs794728949 |
HLI | rs794728949 |
Exac | rs794728949 |
Gnomad | rs794728949 |
Varsome | rs794728949 |
LitVar | rs794728949 |
Map | rs794728949 |
PheGenI | rs794728949 |
Biobank | rs794728949 |
1000 genomes | rs794728949 |
hgdp | rs794728949 |
ensembl | rs794728949 |
geneview | rs794728949 |
scholar | rs794728949 |
rs794728949 | |
pharmgkb | rs794728949 |
gwascentral | rs794728949 |
openSNP | rs794728949 |
23andMe | rs794728949 |
SNPshot | rs794728949 |
SNPdbe | rs794728949 |
MSV3d | rs794728949 |
GWAS Ctlg | rs794728949 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs794728949(-;-) |
Alt | rs794728949(-;-) |
Reference | Rs794728949(G;G) |
Significance | Pathogenic |
Disease | not provided Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | SDHB |
CLNDBN | not provided Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000001.10:g.17354303delC |
CLNSRC | |
CLNACC | RCV000183220.2, RCV000492455.1, |