rs770566897
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AA;AA) | 0 | common in clinvar |
Make rs770566897(-;-) |
Make rs770566897(-;AA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 14 |
Position | 58444072 |
Gene | KIAA0586 |
is a | snp |
is | mentioned by |
dbSNP | rs770566897 |
dbSNP (classic) | rs770566897 |
ClinGen | rs770566897 |
ebi | rs770566897 |
HLI | rs770566897 |
Exac | rs770566897 |
Gnomad | rs770566897 |
Varsome | rs770566897 |
LitVar | rs770566897 |
Map | rs770566897 |
PheGenI | rs770566897 |
Biobank | rs770566897 |
1000 genomes | rs770566897 |
hgdp | rs770566897 |
ensembl | rs770566897 |
geneview | rs770566897 |
scholar | rs770566897 |
rs770566897 | |
pharmgkb | rs770566897 |
gwascentral | rs770566897 |
openSNP | rs770566897 |
23andMe | rs770566897 |
SNPshot | rs770566897 |
SNPdbe | rs770566897 |
MSV3d | rs770566897 |
GWAS Ctlg | rs770566897 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs770566897(-;-) |
Alt | rs770566897(-;-) |
Reference | Rs770566897(AA;AA) |
Significance | Pathogenic |
Disease | Joubert syndrome 23 |
Variation | info |
Gene | KIAA0586 |
CLNDBN | Joubert syndrome 23 |
Reversed | 0 |
HGVS | NC_000014.8:g.58910790_58910791delAA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000186593.4, |