rs876657690
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GCCGTACGGCA;GCCGTACGGCA) | 0 | common in clinvar |
Make rs876657690(-;-) |
Make rs876657690(-;GCCGTACGGCA) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 8 |
Position | 71321746 |
Gene | EYA1 |
is a | snp |
is | mentioned by |
dbSNP | rs876657690 |
dbSNP (classic) | rs876657690 |
ClinGen | rs876657690 |
ebi | rs876657690 |
HLI | rs876657690 |
Exac | rs876657690 |
Gnomad | rs876657690 |
Varsome | rs876657690 |
LitVar | rs876657690 |
Map | rs876657690 |
PheGenI | rs876657690 |
Biobank | rs876657690 |
1000 genomes | rs876657690 |
hgdp | rs876657690 |
ensembl | rs876657690 |
geneview | rs876657690 |
scholar | rs876657690 |
rs876657690 | |
pharmgkb | rs876657690 |
gwascentral | rs876657690 |
openSNP | rs876657690 |
23andMe | rs876657690 |
SNPshot | rs876657690 |
SNPdbe | rs876657690 |
MSV3d | rs876657690 |
GWAS Ctlg | rs876657690 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs876657690(-;-) |
Alt | rs876657690(-;-) |
Reference | Rs876657690(GCCGTACGGCA;GCCGTACGGCA) |
Significance | Pathogenic |
Disease | Melnick-Fraser syndrome |
Variation | info |
Gene | EYA1 |
CLNDBN | Melnick-Fraser syndrome |
Reversed | 1 |
HGVS | NC_000008.10:g.72233981_72233991delTGCCGTACGGC |
CLNSRC | |
CLNACC | RCV000215585.1, |