rs11545664
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs11545664(A;A) |
Make rs11545664(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 9 |
Position | 127843106 |
Gene | ENG |
is a | snp |
is | mentioned by |
dbSNP | rs11545664 |
dbSNP (classic) | rs11545664 |
ClinGen | rs11545664 |
ebi | rs11545664 |
HLI | rs11545664 |
Exac | rs11545664 |
Gnomad | rs11545664 |
Varsome | rs11545664 |
LitVar | rs11545664 |
Map | rs11545664 |
PheGenI | rs11545664 |
Biobank | rs11545664 |
1000 genomes | rs11545664 |
hgdp | rs11545664 |
ensembl | rs11545664 |
geneview | rs11545664 |
scholar | rs11545664 |
rs11545664 | |
pharmgkb | rs11545664 |
gwascentral | rs11545664 |
openSNP | rs11545664 |
23andMe | rs11545664 |
SNPshot | rs11545664 |
SNPdbe | rs11545664 |
MSV3d | rs11545664 |
GWAS Ctlg | rs11545664 |
Merged from | Rs16930129 |
GMAF | 0.1249 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs11545664(A;A) |
Alt | rs11545664(A;A) |
Reference | Rs11545664(G;G) |
Significance | Probable-non-pathogenic |
Disease | not specified Juvenile Polyposis Osler hemorrhagic telangiectasia syndrome |
Variation | info |
Gene | ENG |
CLNDBN | not specified Juvenile Polyposis Osler hemorrhagic telangiectasia syndrome |
Reversed | 1 |
HGVS | NC_000009.11:g.130605385C>T |
CLNSRC | ClinVar GeneDx |
CLNACC | RCV000150652.4, RCV000273604.1, RCV000368171.1, |