rs587779733
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs587779733(-;-) |
Make rs587779733(-;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 12 |
Position | 88084669 |
Gene | CEP290 |
is a | snp |
is | mentioned by |
dbSNP | rs587779733 |
dbSNP (classic) | rs587779733 |
ClinGen | rs587779733 |
ebi | rs587779733 |
HLI | rs587779733 |
Exac | rs587779733 |
Gnomad | rs587779733 |
Varsome | rs587779733 |
LitVar | rs587779733 |
Map | rs587779733 |
PheGenI | rs587779733 |
Biobank | rs587779733 |
1000 genomes | rs587779733 |
hgdp | rs587779733 |
ensembl | rs587779733 |
geneview | rs587779733 |
scholar | rs587779733 |
rs587779733 | |
pharmgkb | rs587779733 |
gwascentral | rs587779733 |
openSNP | rs587779733 |
23andMe | rs587779733 |
SNPshot | rs587779733 |
SNPdbe | rs587779733 |
MSV3d | rs587779733 |
GWAS Ctlg | rs587779733 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587779733(-;-) |
Alt | rs587779733(-;-) |
Reference | Rs587779733(A;A) |
Significance | Pathogenic |
Disease | Meckel-Gruber syndrome |
Variation | info |
Gene | CEP290 |
CLNDBN | Meckel-Gruber syndrome |
Reversed | 1 |
HGVS | NC_000012.11:g.88478446delT |
CLNSRC | |
CLNACC | RCV000114199.1, |