rs863223406
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 4.3 | Hereditary hemorrhagic telangiectasia |
(G;G) | 0 | common in clinvar |
Make rs863223406(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 51919116 |
Gene | ACVRL1 |
is a | snp |
is | mentioned by |
dbSNP | rs863223406 |
dbSNP (classic) | rs863223406 |
ClinGen | rs863223406 |
ebi | rs863223406 |
HLI | rs863223406 |
Exac | rs863223406 |
Gnomad | rs863223406 |
Varsome | rs863223406 |
LitVar | rs863223406 |
Map | rs863223406 |
PheGenI | rs863223406 |
Biobank | rs863223406 |
1000 genomes | rs863223406 |
hgdp | rs863223406 |
ensembl | rs863223406 |
geneview | rs863223406 |
scholar | rs863223406 |
rs863223406 | |
pharmgkb | rs863223406 |
gwascentral | rs863223406 |
openSNP | rs863223406 |
23andMe | rs863223406 |
SNPshot | rs863223406 |
SNPdbe | rs863223406 |
MSV3d | rs863223406 |
GWAS Ctlg | rs863223406 |
Max Magnitude | 4.3 |
ClinVar | |
---|---|
Risk | rs863223406(A;A) |
Alt | rs863223406(A;A) |
Reference | Rs863223406(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | ACVRL1 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000012.11:g.52312900G>A |
CLNSRC | |
CLNACC | RCV000197808.1, |