rs863223539
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;T) | 4.3 | Hereditary hemorrhagic telangiectasia |
(T;T) | 0 | common in clinvar |
Make rs863223539(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 9 |
Position | 127817175 |
Gene | ENG, LOC102723566 |
is a | snp |
is | mentioned by |
dbSNP | rs863223539 |
dbSNP (classic) | rs863223539 |
ClinGen | rs863223539 |
ebi | rs863223539 |
HLI | rs863223539 |
Exac | rs863223539 |
Gnomad | rs863223539 |
Varsome | rs863223539 |
LitVar | rs863223539 |
Map | rs863223539 |
PheGenI | rs863223539 |
Biobank | rs863223539 |
1000 genomes | rs863223539 |
hgdp | rs863223539 |
ensembl | rs863223539 |
geneview | rs863223539 |
scholar | rs863223539 |
rs863223539 | |
pharmgkb | rs863223539 |
gwascentral | rs863223539 |
openSNP | rs863223539 |
23andMe | rs863223539 |
SNPshot | rs863223539 |
SNPdbe | rs863223539 |
MSV3d | rs863223539 |
GWAS Ctlg | rs863223539 |
Max Magnitude | 4.3 |
ClinVar | |
---|---|
Risk | rs863223539(A;A) |
Alt | rs863223539(A;A) |
Reference | Rs863223539(T;T) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | ENG LOC102723566 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000009.11:g.130579454A>T |
CLNSRC | |
CLNACC | RCV000198174.2, |