rs869025180
From SNPedia
Orientation | minus |
Stabilized | minus |
Make rs869025180(A;A) |
Make rs869025180(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 8 |
Position | 71299637 |
Gene | EYA1 |
is a | snp |
is | mentioned by |
dbSNP | rs869025180 |
dbSNP (classic) | rs869025180 |
ClinGen | rs869025180 |
ebi | rs869025180 |
HLI | rs869025180 |
Exac | rs869025180 |
Gnomad | rs869025180 |
Varsome | rs869025180 |
LitVar | rs869025180 |
Map | rs869025180 |
PheGenI | rs869025180 |
Biobank | rs869025180 |
1000 genomes | rs869025180 |
hgdp | rs869025180 |
ensembl | rs869025180 |
geneview | rs869025180 |
scholar | rs869025180 |
rs869025180 | |
pharmgkb | rs869025180 |
gwascentral | rs869025180 |
openSNP | rs869025180 |
23andMe | rs869025180 |
SNPshot | rs869025180 |
SNPdbe | rs869025180 |
MSV3d | rs869025180 |
GWAS Ctlg | rs869025180 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869025180(A;A) |
Alt | rs869025180(A;A) |
Reference | Rs869025180(G;G) |
Significance | Pathogenic |
Disease | Otofaciocervical syndrome |
Variation | info |
Gene | EYA1 |
CLNDBN | Otofaciocervical syndrome |
Reversed | 1 |
HGVS | NC_000008.10:g.72211872C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000008404.5, |