rs28936399
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;T) | 4.3 | Hereditary hemorrhagic telangiectasia |
(T;T) | 0 | common in clinvar |
Make rs28936399(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 51916114 |
Gene | ACVRL1 |
is a | snp |
is | mentioned by |
dbSNP | rs28936399 |
dbSNP (classic) | rs28936399 |
ClinGen | rs28936399 |
ebi | rs28936399 |
HLI | rs28936399 |
Exac | rs28936399 |
Gnomad | rs28936399 |
Varsome | rs28936399 |
LitVar | rs28936399 |
Map | rs28936399 |
PheGenI | rs28936399 |
Biobank | rs28936399 |
1000 genomes | rs28936399 |
hgdp | rs28936399 |
ensembl | rs28936399 |
geneview | rs28936399 |
scholar | rs28936399 |
rs28936399 | |
pharmgkb | rs28936399 |
gwascentral | rs28936399 |
openSNP | rs28936399 |
23andMe | rs28936399 |
SNPshot | rs28936399 |
SNPdbe | rs28936399 |
MSV3d | rs28936399 |
GWAS Ctlg | rs28936399 |
Max Magnitude | 4.3 |
ClinVar | |
---|---|
Risk | rs28936399(G;G) |
Alt | rs28936399(G;G) |
Reference | Rs28936399(T;T) |
Significance | Pathogenic |
Disease | Hereditary hemorrhagic telangiectasia type 2 |
Variation | info |
Gene | ACVRL1 |
CLNDBN | Hereditary hemorrhagic telangiectasia type 2 |
Reversed | 0 |
HGVS | NC_000012.11:g.52309898T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000008728.2, |