rs768675259
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CA;CA) | 0 | common in clinvar |
(I;I) | 0 | common genotype |
Make rs768675259(-;-) |
Make rs768675259(-;CA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 5 |
Position | 37170233 |
Gene | C5orf42 |
is a | snp |
is | mentioned by |
dbSNP | rs768675259 |
dbSNP (classic) | rs768675259 |
ClinGen | rs768675259 |
ebi | rs768675259 |
HLI | rs768675259 |
Exac | rs768675259 |
Gnomad | rs768675259 |
Varsome | rs768675259 |
LitVar | rs768675259 |
Map | rs768675259 |
PheGenI | rs768675259 |
Biobank | rs768675259 |
1000 genomes | rs768675259 |
hgdp | rs768675259 |
ensembl | rs768675259 |
geneview | rs768675259 |
scholar | rs768675259 |
rs768675259 | |
pharmgkb | rs768675259 |
gwascentral | rs768675259 |
openSNP | rs768675259 |
23andMe | rs768675259 |
SNPshot | rs768675259 |
SNPdbe | rs768675259 |
MSV3d | rs768675259 |
GWAS Ctlg | rs768675259 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs768675259(-;-) |
Alt | rs768675259(-;-) |
Reference | Rs768675259(CA;CA) |
Significance | Pathogenic |
Disease | Joubert syndrome 17 |
Variation | info |
Gene | C5orf42 |
CLNDBN | Joubert syndrome 17 |
Reversed | 0 |
HGVS | NC_000005.9:g.37170335_37170336delCA |
CLNSRC | |
CLNACC | RCV000201611.1, |