rs140259402
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs140259402(C;T) |
Make rs140259402(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 7 |
Position | 130402686 |
Gene | CEP41 |
is a | snp |
is | mentioned by |
dbSNP | rs140259402 |
dbSNP (classic) | rs140259402 |
ClinGen | rs140259402 |
ebi | rs140259402 |
HLI | rs140259402 |
Exac | rs140259402 |
Gnomad | rs140259402 |
Varsome | rs140259402 |
LitVar | rs140259402 |
Map | rs140259402 |
PheGenI | rs140259402 |
Biobank | rs140259402 |
1000 genomes | rs140259402 |
hgdp | rs140259402 |
ensembl | rs140259402 |
geneview | rs140259402 |
scholar | rs140259402 |
rs140259402 | |
pharmgkb | rs140259402 |
gwascentral | rs140259402 |
openSNP | rs140259402 |
23andMe | rs140259402 |
SNPshot | rs140259402 |
SNPdbe | rs140259402 |
MSV3d | rs140259402 |
GWAS Ctlg | rs140259402 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs140259402(T;T) |
Alt | rs140259402(T;T) |
Reference | Rs140259402(C;C) |
Significance | Pathogenic |
Disease | Joubert syndrome 12/15 |
Variation | info |
Gene | CEP41 |
CLNDBN | Joubert syndrome 12/15, digenic |
Reversed | 0 |
HGVS | NC_000007.13:g.130042527C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000023826.2, |