rs200245469
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.2 | Hereditary PGL/PCC Syndrome |
(G;G) | 0 | common in clinvar |
Make rs200245469(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 1 |
Position | 17022724 |
Gene | SDHB |
is a | snp |
is | mentioned by |
dbSNP | rs200245469 |
dbSNP (classic) | rs200245469 |
ClinGen | rs200245469 |
ebi | rs200245469 |
HLI | rs200245469 |
Exac | rs200245469 |
Gnomad | rs200245469 |
Varsome | rs200245469 |
LitVar | rs200245469 |
Map | rs200245469 |
PheGenI | rs200245469 |
Biobank | rs200245469 |
1000 genomes | rs200245469 |
hgdp | rs200245469 |
ensembl | rs200245469 |
geneview | rs200245469 |
scholar | rs200245469 |
rs200245469 | |
pharmgkb | rs200245469 |
gwascentral | rs200245469 |
openSNP | rs200245469 |
23andMe | rs200245469 |
SNPshot | rs200245469 |
SNPdbe | rs200245469 |
MSV3d | rs200245469 |
GWAS Ctlg | rs200245469 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs200245469(A;A) rs200245469(C;C) |
Alt | rs200245469(A;A) rs200245469(C;C) |
Reference | Rs200245469(G;G) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | SDHB |
CLNDBN | Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000001.10:g.17349219G>A; NC_000001.10:g.17349219G>C |
CLNSRC | |
CLNACC | RCV000162444.3, RCV000480999.1, |