rs770758833
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs770758833(-;-) |
Make rs770758833(-;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 5 |
Position | 37125315 |
Gene | C5orf42 |
is a | snp |
is | mentioned by |
dbSNP | rs770758833 |
dbSNP (classic) | rs770758833 |
ClinGen | rs770758833 |
ebi | rs770758833 |
HLI | rs770758833 |
Exac | rs770758833 |
Gnomad | rs770758833 |
Varsome | rs770758833 |
LitVar | rs770758833 |
Map | rs770758833 |
PheGenI | rs770758833 |
Biobank | rs770758833 |
1000 genomes | rs770758833 |
hgdp | rs770758833 |
ensembl | rs770758833 |
geneview | rs770758833 |
scholar | rs770758833 |
rs770758833 | |
pharmgkb | rs770758833 |
gwascentral | rs770758833 |
openSNP | rs770758833 |
23andMe | rs770758833 |
SNPshot | rs770758833 |
SNPdbe | rs770758833 |
MSV3d | rs770758833 |
GWAS Ctlg | rs770758833 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs770758833(-;-) |
Alt | rs770758833(-;-) |
Reference | Rs770758833(C;C) |
Significance | Pathogenic |
Disease | Joubert syndrome 17 |
Variation | info |
Gene | C5orf42 |
CLNDBN | Joubert syndrome 17 |
Reversed | 0 |
HGVS | NC_000005.9:g.37125417delC |
CLNSRC | |
CLNACC | RCV000201559.1, |