rs199804679
From SNPedia
Orientation | minus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 4.4 | Hereditary hemorrhagic telangiectasia, type 5 |
(C;T) | 4.3 | Hereditary hemorrhagic telangiectasia |
(G;G) | 0 | common in clinvar |
Make rs199804679(A;A) |
Reference | GRCh38 38.1/142 |
Chromosome | 10 |
Position | 47322922 |
Gene | GDF2 |
is a | snp |
is | mentioned by |
dbSNP | rs199804679 |
dbSNP (classic) | rs199804679 |
ClinGen | rs199804679 |
ebi | rs199804679 |
HLI | rs199804679 |
Exac | rs199804679 |
Gnomad | rs199804679 |
Varsome | rs199804679 |
LitVar | rs199804679 |
Map | rs199804679 |
PheGenI | rs199804679 |
Biobank | rs199804679 |
1000 genomes | rs199804679 |
hgdp | rs199804679 |
ensembl | rs199804679 |
geneview | rs199804679 |
scholar | rs199804679 |
rs199804679 | |
pharmgkb | rs199804679 |
gwascentral | rs199804679 |
openSNP | rs199804679 |
23andMe | rs199804679 |
SNPshot | rs199804679 |
SNPdbe | rs199804679 |
MSV3d | rs199804679 |
GWAS Ctlg | rs199804679 |
Max Magnitude | 4.4 |
c.254C>T (p.Pro85Leu)
ClinVar | |
---|---|
Risk | rs199804679(A;A) |
Alt | rs199804679(A;A) |
Reference | Rs199804679(G;G) |
Significance | Pathogenic |
Disease | Telangiectasia |
Variation | info |
Gene | GDF2 |
CLNDBN | Telangiectasia, hereditary hemorrhagic, type 5 |
Reversed | 0 |
HGVS | NC_000010.10:g.48416440G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000074344.2, |