rs863223415
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs863223415(-;G) |
Make rs863223415(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 51913182 |
Gene | ACVRL1 |
is a | snp |
is | mentioned by |
dbSNP | rs863223415 |
dbSNP (classic) | rs863223415 |
ClinGen | rs863223415 |
ebi | rs863223415 |
HLI | rs863223415 |
Exac | rs863223415 |
Gnomad | rs863223415 |
Varsome | rs863223415 |
LitVar | rs863223415 |
Map | rs863223415 |
PheGenI | rs863223415 |
Biobank | rs863223415 |
1000 genomes | rs863223415 |
hgdp | rs863223415 |
ensembl | rs863223415 |
geneview | rs863223415 |
scholar | rs863223415 |
rs863223415 | |
pharmgkb | rs863223415 |
gwascentral | rs863223415 |
openSNP | rs863223415 |
23andMe | rs863223415 |
SNPshot | rs863223415 |
SNPdbe | rs863223415 |
MSV3d | rs863223415 |
GWAS Ctlg | rs863223415 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863223415(G;G) |
Alt | rs863223415(G;G) |
Reference | Rs863223415(-;-) |
Significance | Pathogenic |
Disease | not provided Hereditary hemorrhagic telangiectasia type 2 |
Variation | info |
Gene | ACVRL1 |
CLNDBN | not provided Hereditary hemorrhagic telangiectasia type 2 |
Reversed | 0 |
HGVS | NC_000012.11:g.52306966dupG |
CLNSRC | |
CLNACC | RCV000195435.2, RCV000459586.1, |