rs777668842
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs777668842(A;A) |
Make rs777668842(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 135455811 |
Gene | AHI1 |
is a | snp |
is | mentioned by |
dbSNP | rs777668842 |
dbSNP (classic) | rs777668842 |
ClinGen | rs777668842 |
ebi | rs777668842 |
HLI | rs777668842 |
Exac | rs777668842 |
Gnomad | rs777668842 |
Varsome | rs777668842 |
LitVar | rs777668842 |
Map | rs777668842 |
PheGenI | rs777668842 |
Biobank | rs777668842 |
1000 genomes | rs777668842 |
hgdp | rs777668842 |
ensembl | rs777668842 |
geneview | rs777668842 |
scholar | rs777668842 |
rs777668842 | |
pharmgkb | rs777668842 |
gwascentral | rs777668842 |
openSNP | rs777668842 |
23andMe | rs777668842 |
SNPshot | rs777668842 |
SNPdbe | rs777668842 |
MSV3d | rs777668842 |
GWAS Ctlg | rs777668842 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs777668842(A;A) |
Alt | rs777668842(A;A) |
Reference | Rs777668842(G;G) |
Significance | Pathogenic |
Disease | Joubert syndrome 3 Joubert syndrome not provided |
Variation | info |
Gene | AHI1 |
CLNDBN | Joubert syndrome 3 Joubert syndrome not provided |
Reversed | 0 |
HGVS | NC_000006.11:g.135776949G>A |
CLNSRC | |
CLNACC | RCV000201715.1, RCV000206729.1, RCV000482493.1, |