rs773362418
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs773362418(A;A) |
Make rs773362418(A;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 5 |
Position | 37206347 |
Gene | C5orf42 |
is a | snp |
is | mentioned by |
dbSNP | rs773362418 |
dbSNP (classic) | rs773362418 |
ClinGen | rs773362418 |
ebi | rs773362418 |
HLI | rs773362418 |
Exac | rs773362418 |
Gnomad | rs773362418 |
Varsome | rs773362418 |
LitVar | rs773362418 |
Map | rs773362418 |
PheGenI | rs773362418 |
Biobank | rs773362418 |
1000 genomes | rs773362418 |
hgdp | rs773362418 |
ensembl | rs773362418 |
geneview | rs773362418 |
scholar | rs773362418 |
rs773362418 | |
pharmgkb | rs773362418 |
gwascentral | rs773362418 |
openSNP | rs773362418 |
23andMe | rs773362418 |
SNPshot | rs773362418 |
SNPdbe | rs773362418 |
MSV3d | rs773362418 |
GWAS Ctlg | rs773362418 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs773362418(A;A) |
Alt | rs773362418(A;A) |
Reference | Rs773362418(C;C) |
Significance | Pathogenic |
Disease | Joubert syndrome 17 |
Variation | info |
Gene | C5orf42 |
CLNDBN | Joubert syndrome 17 |
Reversed | 0 |
HGVS | NC_000005.9:g.37206449C>A |
CLNSRC | |
CLNACC | RCV000201737.1, |