rs764412921
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs764412921(A;G) |
Make rs764412921(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 6 |
Position | 135438494 |
Gene | AHI1 |
is a | snp |
is | mentioned by |
dbSNP | rs764412921 |
dbSNP (classic) | rs764412921 |
ClinGen | rs764412921 |
ebi | rs764412921 |
HLI | rs764412921 |
Exac | rs764412921 |
Gnomad | rs764412921 |
Varsome | rs764412921 |
LitVar | rs764412921 |
Map | rs764412921 |
PheGenI | rs764412921 |
Biobank | rs764412921 |
1000 genomes | rs764412921 |
hgdp | rs764412921 |
ensembl | rs764412921 |
geneview | rs764412921 |
scholar | rs764412921 |
rs764412921 | |
pharmgkb | rs764412921 |
gwascentral | rs764412921 |
openSNP | rs764412921 |
23andMe | rs764412921 |
SNPshot | rs764412921 |
SNPdbe | rs764412921 |
MSV3d | rs764412921 |
GWAS Ctlg | rs764412921 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs764412921(G;G) rs764412921(T;T) |
Alt | rs764412921(G;G) rs764412921(T;T) |
Reference | Rs764412921(A;A) |
Significance | Pathogenic |
Disease | Joubert syndrome 3 |
Variation | info |
Gene | AHI1 |
CLNDBN | Joubert syndrome 3 |
Reversed | 0 |
HGVS | NC_000006.11:g.135759632A>T |
CLNSRC | |
CLNACC | RCV000201738.1, |