rs370119681
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs370119681(A;A) |
Make rs370119681(A;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 88080226 |
Gene | CEP290 |
is a | snp |
is | mentioned by |
dbSNP | rs370119681 |
dbSNP (classic) | rs370119681 |
ClinGen | rs370119681 |
ebi | rs370119681 |
HLI | rs370119681 |
Exac | rs370119681 |
Gnomad | rs370119681 |
Varsome | rs370119681 |
LitVar | rs370119681 |
Map | rs370119681 |
PheGenI | rs370119681 |
Biobank | rs370119681 |
1000 genomes | rs370119681 |
hgdp | rs370119681 |
ensembl | rs370119681 |
geneview | rs370119681 |
scholar | rs370119681 |
rs370119681 | |
pharmgkb | rs370119681 |
gwascentral | rs370119681 |
openSNP | rs370119681 |
23andMe | rs370119681 |
SNPshot | rs370119681 |
SNPdbe | rs370119681 |
MSV3d | rs370119681 |
GWAS Ctlg | rs370119681 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs370119681(A;A) |
Alt | rs370119681(A;A) |
Reference | Rs370119681(C;C) |
Significance | Pathogenic |
Disease | Joubert syndrome 5 |
Variation | info |
Gene | CEP290 |
CLNDBN | Joubert syndrome 5 |
Reversed | 0 |
HGVS | NC_000012.11:g.88474003C>A |
CLNSRC | |
CLNACC | RCV000177953.1, |