rs587776647
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;A) | 6.2 | Hereditary PGL/PCC Syndrome |
(A;A) | 0 | common in clinvar |
Make rs587776647(-;-) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 112094953 |
Gene | SDHD |
is a | snp |
is | mentioned by |
dbSNP | rs587776647 |
dbSNP (classic) | rs587776647 |
ClinGen | rs587776647 |
ebi | rs587776647 |
HLI | rs587776647 |
Exac | rs587776647 |
Gnomad | rs587776647 |
Varsome | rs587776647 |
LitVar | rs587776647 |
Map | rs587776647 |
PheGenI | rs587776647 |
Biobank | rs587776647 |
1000 genomes | rs587776647 |
hgdp | rs587776647 |
ensembl | rs587776647 |
geneview | rs587776647 |
scholar | rs587776647 |
rs587776647 | |
pharmgkb | rs587776647 |
gwascentral | rs587776647 |
openSNP | rs587776647 |
23andMe | rs587776647 |
SNPshot | rs587776647 |
SNPdbe | rs587776647 |
MSV3d | rs587776647 |
GWAS Ctlg | rs587776647 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs587776647(-;-) |
Alt | rs587776647(-;-) |
Reference | Rs587776647(A;A) |
Significance | Pathogenic |
Disease | Paragangliomas 1 |
Variation | info |
Gene | SDHD |
CLNDBN | Paragangliomas 1 |
Reversed | 0 |
HGVS | NC_000011.9:g.111965677delA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007319.2, |