rs587782210
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 6.2 | Hereditary PGL/PCC Syndrome |
(C;C) | 0 | common in clinvar |
Make rs587782210(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 11 |
Position | 112087959 |
Gene | SDHD, TIMM8B |
is a | snp |
is | mentioned by |
dbSNP | rs587782210 |
dbSNP (classic) | rs587782210 |
ClinGen | rs587782210 |
ebi | rs587782210 |
HLI | rs587782210 |
Exac | rs587782210 |
Gnomad | rs587782210 |
Varsome | rs587782210 |
LitVar | rs587782210 |
Map | rs587782210 |
PheGenI | rs587782210 |
Biobank | rs587782210 |
1000 genomes | rs587782210 |
hgdp | rs587782210 |
ensembl | rs587782210 |
geneview | rs587782210 |
scholar | rs587782210 |
rs587782210 | |
pharmgkb | rs587782210 |
gwascentral | rs587782210 |
openSNP | rs587782210 |
23andMe | rs587782210 |
SNPshot | rs587782210 |
SNPdbe | rs587782210 |
MSV3d | rs587782210 |
GWAS Ctlg | rs587782210 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs587782210(A;A) |
Alt | rs587782210(A;A) |
Reference | Rs587782210(C;C) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | TIMM8B SDHD |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.111958683C>A |
CLNSRC | |
CLNACC | RCV000130886.2, |