rs863223538
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs863223538(A;A) |
Make rs863223538(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 127818220 |
Gene | ENG, LOC102723566 |
is a | snp |
is | mentioned by |
dbSNP | rs863223538 |
dbSNP (classic) | rs863223538 |
ClinGen | rs863223538 |
ebi | rs863223538 |
HLI | rs863223538 |
Exac | rs863223538 |
Gnomad | rs863223538 |
Varsome | rs863223538 |
LitVar | rs863223538 |
Map | rs863223538 |
PheGenI | rs863223538 |
Biobank | rs863223538 |
1000 genomes | rs863223538 |
hgdp | rs863223538 |
ensembl | rs863223538 |
geneview | rs863223538 |
scholar | rs863223538 |
rs863223538 | |
pharmgkb | rs863223538 |
gwascentral | rs863223538 |
openSNP | rs863223538 |
23andMe | rs863223538 |
SNPshot | rs863223538 |
SNPdbe | rs863223538 |
MSV3d | rs863223538 |
GWAS Ctlg | rs863223538 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863223538(A;A) |
Alt | rs863223538(A;A) |
Reference | Rs863223538(G;G) |
Significance | Pathogenic |
Disease | not provided Osler hemorrhagic telangiectasia syndrome |
Variation | info |
Gene | ENG LOC102723566 |
CLNDBN | not provided Osler hemorrhagic telangiectasia syndrome |
Reversed | 1 |
HGVS | NC_000009.11:g.130580499C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000196652.1, RCV000229345.1, |