rs372659908
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs372659908(A;A) |
Make rs372659908(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 135433081 |
Gene | AHI1 |
is a | snp |
is | mentioned by |
dbSNP | rs372659908 |
dbSNP (classic) | rs372659908 |
ClinGen | rs372659908 |
ebi | rs372659908 |
HLI | rs372659908 |
Exac | rs372659908 |
Gnomad | rs372659908 |
Varsome | rs372659908 |
LitVar | rs372659908 |
Map | rs372659908 |
PheGenI | rs372659908 |
Biobank | rs372659908 |
1000 genomes | rs372659908 |
hgdp | rs372659908 |
ensembl | rs372659908 |
geneview | rs372659908 |
scholar | rs372659908 |
rs372659908 | |
pharmgkb | rs372659908 |
gwascentral | rs372659908 |
openSNP | rs372659908 |
23andMe | rs372659908 |
SNPshot | rs372659908 |
SNPdbe | rs372659908 |
MSV3d | rs372659908 |
GWAS Ctlg | rs372659908 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs372659908(A;A) |
Alt | rs372659908(A;A) |
Reference | Rs372659908(G;G) |
Significance | Pathogenic |
Disease | Joubert syndrome 3 not provided |
Variation | info |
Gene | AHI1 |
CLNDBN | Joubert syndrome 3 not provided |
Reversed | 0 |
HGVS | NC_000006.11:g.135754219G>A |
CLNSRC | |
CLNACC | RCV000201604.1, RCV000255574.1, |