rs755407014
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs755407014(-;-) |
Make rs755407014(-;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 135433121 |
Gene | AHI1 |
is a | snp |
is | mentioned by |
dbSNP | rs755407014 |
dbSNP (classic) | rs755407014 |
ClinGen | rs755407014 |
ebi | rs755407014 |
HLI | rs755407014 |
Exac | rs755407014 |
Gnomad | rs755407014 |
Varsome | rs755407014 |
LitVar | rs755407014 |
Map | rs755407014 |
PheGenI | rs755407014 |
Biobank | rs755407014 |
1000 genomes | rs755407014 |
hgdp | rs755407014 |
ensembl | rs755407014 |
geneview | rs755407014 |
scholar | rs755407014 |
rs755407014 | |
pharmgkb | rs755407014 |
gwascentral | rs755407014 |
openSNP | rs755407014 |
23andMe | rs755407014 |
SNPshot | rs755407014 |
SNPdbe | rs755407014 |
MSV3d | rs755407014 |
GWAS Ctlg | rs755407014 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs755407014(-;-) |
Alt | rs755407014(-;-) |
Reference | Rs755407014(T;T) |
Significance | Pathogenic |
Disease | Joubert syndrome 3 |
Variation | info |
Gene | AHI1 |
CLNDBN | Joubert syndrome 3 |
Reversed | 0 |
HGVS | NC_000006.11:g.135754259delT |
CLNSRC | |
CLNACC | RCV000201778.1, |