rs748034744
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs748034744(A;G) |
Make rs748034744(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 88111226 |
Gene | CEP290 |
is a | snp |
is | mentioned by |
dbSNP | rs748034744 |
dbSNP (classic) | rs748034744 |
ClinGen | rs748034744 |
ebi | rs748034744 |
HLI | rs748034744 |
Exac | rs748034744 |
Gnomad | rs748034744 |
Varsome | rs748034744 |
LitVar | rs748034744 |
Map | rs748034744 |
PheGenI | rs748034744 |
Biobank | rs748034744 |
1000 genomes | rs748034744 |
hgdp | rs748034744 |
ensembl | rs748034744 |
geneview | rs748034744 |
scholar | rs748034744 |
rs748034744 | |
pharmgkb | rs748034744 |
gwascentral | rs748034744 |
openSNP | rs748034744 |
23andMe | rs748034744 |
SNPshot | rs748034744 |
SNPdbe | rs748034744 |
MSV3d | rs748034744 |
GWAS Ctlg | rs748034744 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs748034744(G;G) |
Alt | rs748034744(G;G) |
Reference | Rs748034744(A;A) |
Significance | Pathogenic |
Disease | Joubert syndrome 5 |
Variation | info |
Gene | CEP290 |
CLNDBN | Joubert syndrome 5 |
Reversed | 0 |
HGVS | NC_000012.11:g.88505003A>G |
CLNSRC | |
CLNACC | RCV000201605.1, |