rs137852832
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs137852832(G;T) |
Make rs137852832(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 88077263 |
Gene | CEP290 |
is a | snp |
is | mentioned by |
dbSNP | rs137852832 |
dbSNP (classic) | rs137852832 |
ClinGen | rs137852832 |
ebi | rs137852832 |
HLI | rs137852832 |
Exac | rs137852832 |
Gnomad | rs137852832 |
Varsome | rs137852832 |
LitVar | rs137852832 |
Map | rs137852832 |
PheGenI | rs137852832 |
Biobank | rs137852832 |
1000 genomes | rs137852832 |
hgdp | rs137852832 |
ensembl | rs137852832 |
geneview | rs137852832 |
scholar | rs137852832 |
rs137852832 | |
pharmgkb | rs137852832 |
gwascentral | rs137852832 |
openSNP | rs137852832 |
23andMe | rs137852832 |
SNPshot | rs137852832 |
SNPdbe | rs137852832 |
MSV3d | rs137852832 |
GWAS Ctlg | rs137852832 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137852832(T;T) |
Alt | rs137852832(T;T) |
Reference | Rs137852832(G;G) |
Significance | Pathogenic |
Disease | Joubert syndrome 5 not provided Meckel-Gruber syndrome Leber congenital amaurosis 10 |
Variation | info |
Gene | CEP290 |
CLNDBN | Joubert syndrome 5 not provided Meckel-Gruber syndrome Leber congenital amaurosis 10 |
Reversed | 1 |
HGVS | NC_000012.11:g.88471040C>A |
CLNSRC | HGMD OMIM Allelic Variant |
CLNACC | RCV000001396.5, RCV000086298.1, RCV000114202.1, RCV000152972.3, |