rs869025277
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs869025277(-;T) |
Make rs869025277(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 1 |
Position | 3835081 |
Gene | CEP104 |
is a | snp |
is | mentioned by |
dbSNP | rs869025277 |
dbSNP (classic) | rs869025277 |
ClinGen | rs869025277 |
ebi | rs869025277 |
HLI | rs869025277 |
Exac | rs869025277 |
Gnomad | rs869025277 |
Varsome | rs869025277 |
LitVar | rs869025277 |
Map | rs869025277 |
PheGenI | rs869025277 |
Biobank | rs869025277 |
1000 genomes | rs869025277 |
hgdp | rs869025277 |
ensembl | rs869025277 |
geneview | rs869025277 |
scholar | rs869025277 |
rs869025277 | |
pharmgkb | rs869025277 |
gwascentral | rs869025277 |
openSNP | rs869025277 |
23andMe | rs869025277 |
SNPshot | rs869025277 |
SNPdbe | rs869025277 |
MSV3d | rs869025277 |
GWAS Ctlg | rs869025277 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869025277(T;T) |
Alt | rs869025277(T;T) |
Reference | Rs869025277(-;-) |
Significance | Pathogenic |
Disease | Joubert syndrome 25 |
Variation | info |
Gene | CEP104 |
CLNDBN | Joubert syndrome 25 |
Reversed | 1 |
HGVS | NC_000001.10:g.3751645_3751646insA |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000207071.1, |