rs200330818
From SNPedia
Orientation | minus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;C) | 4.4 | Hereditary hemorrhagic telangiectasia, type 5 |
(C;C) | 0 | common in clinvar |
Make rs200330818(A;A) |
Reference | GRCh38 38.1/142 |
Chromosome | 10 |
Position | 47322871 |
Gene | GDF2 |
is a | snp |
is | mentioned by |
dbSNP | rs200330818 |
dbSNP (classic) | rs200330818 |
ClinGen | rs200330818 |
ebi | rs200330818 |
HLI | rs200330818 |
Exac | rs200330818 |
Gnomad | rs200330818 |
Varsome | rs200330818 |
LitVar | rs200330818 |
Map | rs200330818 |
PheGenI | rs200330818 |
Biobank | rs200330818 |
1000 genomes | rs200330818 |
hgdp | rs200330818 |
ensembl | rs200330818 |
geneview | rs200330818 |
scholar | rs200330818 |
rs200330818 | |
pharmgkb | rs200330818 |
gwascentral | rs200330818 |
openSNP | rs200330818 |
23andMe | rs200330818 |
SNPshot | rs200330818 |
SNPdbe | rs200330818 |
MSV3d | rs200330818 |
GWAS Ctlg | rs200330818 |
Max Magnitude | 4.4 |
c.203G>T (p.Arg68Leu)
ClinVar | |
---|---|
Risk | rs200330818(A;A) rs200330818(T;T) |
Alt | rs200330818(A;A) rs200330818(T;T) |
Reference | Rs200330818(C;C) |
Significance | Pathogenic |
Disease | Telangiectasia |
Variation | info |
Gene | GDF2 |
CLNDBN | Telangiectasia, hereditary hemorrhagic, type 5 |
Reversed | 0 |
HGVS | NC_000010.10:g.48416491C>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000074345.2, |