rs606231356
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(ACAACTA;ACAACTA) | 0 | common in clinvar |
Make rs606231356(-;-) |
Make rs606231356(-;ACAACTA) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 8 |
Position | 71215477 |
Gene | EYA1 |
is a | snp |
is | mentioned by |
dbSNP | rs606231356 |
dbSNP (classic) | rs606231356 |
ClinGen | rs606231356 |
ebi | rs606231356 |
HLI | rs606231356 |
Exac | rs606231356 |
Gnomad | rs606231356 |
Varsome | rs606231356 |
LitVar | rs606231356 |
Map | rs606231356 |
PheGenI | rs606231356 |
Biobank | rs606231356 |
1000 genomes | rs606231356 |
hgdp | rs606231356 |
ensembl | rs606231356 |
geneview | rs606231356 |
scholar | rs606231356 |
rs606231356 | |
pharmgkb | rs606231356 |
gwascentral | rs606231356 |
openSNP | rs606231356 |
23andMe | rs606231356 |
SNPshot | rs606231356 |
SNPdbe | rs606231356 |
MSV3d | rs606231356 |
GWAS Ctlg | rs606231356 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231356(-;-) |
Alt | rs606231356(-;-) |
Reference | Rs606231356(ACAACTA;ACAACTA) |
Significance | Pathogenic |
Disease | Branchiootic syndrome |
Variation | info |
Gene | EYA1 |
CLNDBN | Branchiootic syndrome |
Reversed | 1 |
HGVS | NC_000008.10:g.72127712_72127718delTAGTTGT |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008407.5, |