rs113560320
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 6.2 | Hereditary PGL/PCC Syndrome |
(G;G) | 0 | common in clinvar |
Make rs113560320(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 61437820 |
Gene | SDHAF2 |
is a | snp |
is | mentioned by |
dbSNP | rs113560320 |
dbSNP (classic) | rs113560320 |
ClinGen | rs113560320 |
ebi | rs113560320 |
HLI | rs113560320 |
Exac | rs113560320 |
Gnomad | rs113560320 |
Varsome | rs113560320 |
LitVar | rs113560320 |
Map | rs113560320 |
PheGenI | rs113560320 |
Biobank | rs113560320 |
1000 genomes | rs113560320 |
hgdp | rs113560320 |
ensembl | rs113560320 |
geneview | rs113560320 |
scholar | rs113560320 |
rs113560320 | |
pharmgkb | rs113560320 |
gwascentral | rs113560320 |
openSNP | rs113560320 |
23andMe | rs113560320 |
SNPshot | rs113560320 |
SNPdbe | rs113560320 |
MSV3d | rs113560320 |
GWAS Ctlg | rs113560320 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs113560320(A;A) |
Alt | rs113560320(A;A) |
Reference | Rs113560320(G;G) |
Significance | Pathogenic |
Disease | Paragangliomas 2 Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | SDHAF2 |
CLNDBN | Paragangliomas 2 Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.61205292G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000000428.1, RCV000165971.1, |