rs587776776
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs587776776(-;-) |
Make rs587776776(-;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 3 |
Position | 181712911 |
Gene | SOX2, SOX2-OT |
is a | snp |
is | mentioned by |
dbSNP | rs587776776 |
dbSNP (classic) | rs587776776 |
ClinGen | rs587776776 |
ebi | rs587776776 |
HLI | rs587776776 |
Exac | rs587776776 |
Gnomad | rs587776776 |
Varsome | rs587776776 |
LitVar | rs587776776 |
Map | rs587776776 |
PheGenI | rs587776776 |
Biobank | rs587776776 |
1000 genomes | rs587776776 |
hgdp | rs587776776 |
ensembl | rs587776776 |
geneview | rs587776776 |
scholar | rs587776776 |
rs587776776 | |
pharmgkb | rs587776776 |
gwascentral | rs587776776 |
openSNP | rs587776776 |
23andMe | rs587776776 |
SNPshot | rs587776776 |
SNPdbe | rs587776776 |
MSV3d | rs587776776 |
GWAS Ctlg | rs587776776 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776776(-;-) |
Alt | rs587776776(-;-) |
Reference | Rs587776776(C;C) |
Significance | Pathogenic |
Disease | Microphthalmia syndromic 3 |
Variation | info |
Gene | SOX2-OT SOX2 |
CLNDBN | Microphthalmia syndromic 3 |
Reversed | 0 |
HGVS | NC_000003.11:g.181430699delC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000013676.25, |