rs373273223
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs373273223(C;T) |
Make rs373273223(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 11 |
Position | 46705063 |
Gene | ZNF408 |
is a | snp |
is | mentioned by |
dbSNP | rs373273223 |
dbSNP (classic) | rs373273223 |
ClinGen | rs373273223 |
ebi | rs373273223 |
HLI | rs373273223 |
Exac | rs373273223 |
Gnomad | rs373273223 |
Varsome | rs373273223 |
LitVar | rs373273223 |
Map | rs373273223 |
PheGenI | rs373273223 |
Biobank | rs373273223 |
1000 genomes | rs373273223 |
hgdp | rs373273223 |
ensembl | rs373273223 |
geneview | rs373273223 |
scholar | rs373273223 |
rs373273223 | |
pharmgkb | rs373273223 |
gwascentral | rs373273223 |
openSNP | rs373273223 |
23andMe | rs373273223 |
SNPshot | rs373273223 |
SNPdbe | rs373273223 |
MSV3d | rs373273223 |
GWAS Ctlg | rs373273223 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs373273223(T;T) |
Alt | rs373273223(T;T) |
Reference | Rs373273223(C;C) |
Significance | Pathogenic |
Disease | Exudative vitreoretinopathy 6 |
Variation | info |
Gene | ZNF408 |
CLNDBN | Exudative vitreoretinopathy 6 |
Reversed | 0 |
HGVS | NC_000011.9:g.46726613C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000186509.2, |