rs766951273
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs766951273(C;T) |
Make rs766951273(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 8359916 |
Gene | RERE |
is a | snp |
is | mentioned by |
dbSNP | rs766951273 |
dbSNP (classic) | rs766951273 |
ClinGen | rs766951273 |
ebi | rs766951273 |
HLI | rs766951273 |
Exac | rs766951273 |
Gnomad | rs766951273 |
Varsome | rs766951273 |
LitVar | rs766951273 |
Map | rs766951273 |
PheGenI | rs766951273 |
Biobank | rs766951273 |
1000 genomes | rs766951273 |
hgdp | rs766951273 |
ensembl | rs766951273 |
geneview | rs766951273 |
scholar | rs766951273 |
rs766951273 | |
pharmgkb | rs766951273 |
gwascentral | rs766951273 |
openSNP | rs766951273 |
23andMe | rs766951273 |
SNPshot | rs766951273 |
SNPdbe | rs766951273 |
MSV3d | rs766951273 |
GWAS Ctlg | rs766951273 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs766951273(T;T) |
Alt | rs766951273(T;T) |
Reference | Rs766951273(C;C) |
Significance | Pathogenic |
Disease | Neurodevelopmental disorder with or without anomalies of the brain |
Variation | info |
Gene | RERE |
CLNDBN | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart |
Reversed | 0 |
HGVS | NC_000001.10:g.8419976C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000225156.1, |