rs727503490
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;G) | 6.2 | Hereditary PGL/PCC Syndrome |
(G;G) | 0 | common in clinvar |
Make rs727503490(-;-) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 96254934 |
Gene | TMEM127 |
is a | snp |
is | mentioned by |
dbSNP | rs727503490 |
dbSNP (classic) | rs727503490 |
ClinGen | rs727503490 |
ebi | rs727503490 |
HLI | rs727503490 |
Exac | rs727503490 |
Gnomad | rs727503490 |
Varsome | rs727503490 |
LitVar | rs727503490 |
Map | rs727503490 |
PheGenI | rs727503490 |
Biobank | rs727503490 |
1000 genomes | rs727503490 |
hgdp | rs727503490 |
ensembl | rs727503490 |
geneview | rs727503490 |
scholar | rs727503490 |
rs727503490 | |
pharmgkb | rs727503490 |
gwascentral | rs727503490 |
openSNP | rs727503490 |
23andMe | rs727503490 |
SNPshot | rs727503490 |
SNPdbe | rs727503490 |
MSV3d | rs727503490 |
GWAS Ctlg | rs727503490 |
Max Magnitude | 6.2 |
ClinVar | |
---|---|
Risk | rs727503490(-;-) |
Alt | rs727503490(-;-) |
Reference | Rs727503490(G;G) |
Significance | Probable-Pathogenic |
Disease | Hereditary Paraganglioma-Pheochromocytoma Syndromes |
Variation | info |
Gene | TMEM127 |
CLNDBN | Hereditary Paraganglioma-Pheochromocytoma Syndromes |
Reversed | 1 |
HGVS | NC_000002.11:g.96920672delC |
CLNSRC | |
CLNACC | RCV000152047.2, |