rs587776645
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;T) | 6.2 | Hereditary PGL/PCC Syndrome |
Make rs587776645(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 112094827 |
Gene | SDHD |
is a | snp |
is | mentioned by |
dbSNP | rs587776645 |
dbSNP (classic) | rs587776645 |
ClinGen | rs587776645 |
ebi | rs587776645 |
HLI | rs587776645 |
Exac | rs587776645 |
Gnomad | rs587776645 |
Varsome | rs587776645 |
LitVar | rs587776645 |
Map | rs587776645 |
PheGenI | rs587776645 |
Biobank | rs587776645 |
1000 genomes | rs587776645 |
hgdp | rs587776645 |
ensembl | rs587776645 |
geneview | rs587776645 |
scholar | rs587776645 |
rs587776645 | |
pharmgkb | rs587776645 |
gwascentral | rs587776645 |
openSNP | rs587776645 |
23andMe | rs587776645 |
SNPshot | rs587776645 |
SNPdbe | rs587776645 |
MSV3d | rs587776645 |
GWAS Ctlg | rs587776645 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs587776645(T;T) |
Alt | rs587776645(T;T) |
Reference | Rs587776645(-;-) |
Significance | Pathogenic |
Disease | Paragangliomas 1 |
Variation | info |
Gene | SDHD |
CLNDBN | Paragangliomas 1 |
Reversed | 0 |
HGVS | NC_000011.9:g.111965551_111965552insT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007308.2, |