rs780624853
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(TTCT;TTCT) | 0 | common in clinvar |
Make rs780624853(-;-) |
Make rs780624853(-;TTCT) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 88084835 |
Gene | CEP290 |
is a | snp |
is | mentioned by |
dbSNP | rs780624853 |
dbSNP (classic) | rs780624853 |
ClinGen | rs780624853 |
ebi | rs780624853 |
HLI | rs780624853 |
Exac | rs780624853 |
Gnomad | rs780624853 |
Varsome | rs780624853 |
LitVar | rs780624853 |
Map | rs780624853 |
PheGenI | rs780624853 |
Biobank | rs780624853 |
1000 genomes | rs780624853 |
hgdp | rs780624853 |
ensembl | rs780624853 |
geneview | rs780624853 |
scholar | rs780624853 |
rs780624853 | |
pharmgkb | rs780624853 |
gwascentral | rs780624853 |
openSNP | rs780624853 |
23andMe | rs780624853 |
SNPshot | rs780624853 |
SNPdbe | rs780624853 |
MSV3d | rs780624853 |
GWAS Ctlg | rs780624853 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs780624853(-;-) |
Alt | rs780624853(-;-) |
Reference | Rs780624853(TTCT;TTCT) |
Significance | Pathogenic |
Disease | Joubert syndrome 5 |
Variation | info |
Gene | CEP290 |
CLNDBN | Joubert syndrome 5 |
Reversed | 0 |
HGVS | NC_000012.11:g.88478612_88478615delTTCT |
CLNSRC | |
CLNACC | RCV000201704.1, |