rs121908983
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;TAT) | 6.2 | Hereditary PGL/PCC Syndrome |
(TAT;TAT) | 0 | common in clinvar |
Make rs121908983(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 112088974 |
Gene | SDHD |
is a | snp |
is | mentioned by |
dbSNP | rs121908983 |
dbSNP (classic) | rs121908983 |
ClinGen | rs121908983 |
ebi | rs121908983 |
HLI | rs121908983 |
Exac | rs121908983 |
Gnomad | rs121908983 |
Varsome | rs121908983 |
LitVar | rs121908983 |
Map | rs121908983 |
PheGenI | rs121908983 |
Biobank | rs121908983 |
1000 genomes | rs121908983 |
hgdp | rs121908983 |
ensembl | rs121908983 |
geneview | rs121908983 |
scholar | rs121908983 |
rs121908983 | |
pharmgkb | rs121908983 |
gwascentral | rs121908983 |
openSNP | rs121908983 |
23andMe | rs121908983 |
SNPshot | rs121908983 |
SNPdbe | rs121908983 |
MSV3d | rs121908983 |
GWAS Ctlg | rs121908983 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs121908983(-;-) |
Alt | rs121908983(-;-) |
Reference | Rs121908983(TAT;TAT) |
Significance | Pathogenic |
Disease | Paragangliomas 1 |
Variation | info |
Gene | SDHD |
CLNDBN | Paragangliomas 1 |
Reversed | 0 |
HGVS | NC_000011.9:g.111959698_111959700delTAT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007314.2, |