rs9493627
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs9493627(A;A) |
Make rs9493627(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 6 |
Position | 133468590 |
Gene | EYA4, LOC107984121 |
is a | snp |
is | mentioned by |
dbSNP | rs9493627 |
dbSNP (classic) | rs9493627 |
ClinGen | rs9493627 |
ebi | rs9493627 |
HLI | rs9493627 |
Exac | rs9493627 |
Gnomad | rs9493627 |
Varsome | rs9493627 |
LitVar | rs9493627 |
Map | rs9493627 |
PheGenI | rs9493627 |
Biobank | rs9493627 |
1000 genomes | rs9493627 |
hgdp | rs9493627 |
ensembl | rs9493627 |
geneview | rs9493627 |
scholar | rs9493627 |
rs9493627 | |
pharmgkb | rs9493627 |
gwascentral | rs9493627 |
openSNP | rs9493627 |
23andMe | rs9493627 |
SNPshot | rs9493627 |
SNPdbe | rs9493627 |
MSV3d | rs9493627 |
GWAS Ctlg | rs9493627 |
GMAF | 0.3926 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs9493627(A;A) |
Alt | rs9493627(A;A) |
Reference | Rs9493627(G;G) |
Significance | Probable-non-pathogenic |
Disease | not specified Cardiovascular phenotype Dilated Cardiomyopathy Nonsyndromic Hearing Loss |
Variation | info |
Gene | EYA4 LOC101928164 |
CLNDBN | not specified Cardiovascular phenotype Dilated Cardiomyopathy, Dominant Nonsyndromic Hearing Loss, Dominant |
Reversed | 0 |
HGVS | NC_000006.11:g.133789728G>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000037882.4, RCV000247179.1, RCV000276894.1, RCV000332466.1, |