rs786204788
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs786204788(A;A) |
Make rs786204788(A;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 123706833 |
Gene | TCTN2 |
is a | snp |
is | mentioned by |
dbSNP | rs786204788 |
dbSNP (classic) | rs786204788 |
ClinGen | rs786204788 |
ebi | rs786204788 |
HLI | rs786204788 |
Exac | rs786204788 |
Gnomad | rs786204788 |
Varsome | rs786204788 |
LitVar | rs786204788 |
Map | rs786204788 |
PheGenI | rs786204788 |
Biobank | rs786204788 |
1000 genomes | rs786204788 |
hgdp | rs786204788 |
ensembl | rs786204788 |
geneview | rs786204788 |
scholar | rs786204788 |
rs786204788 | |
pharmgkb | rs786204788 |
gwascentral | rs786204788 |
openSNP | rs786204788 |
23andMe | rs786204788 |
SNPshot | rs786204788 |
SNPdbe | rs786204788 |
MSV3d | rs786204788 |
GWAS Ctlg | rs786204788 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204788(A;A) |
Alt | rs786204788(A;A) |
Reference | Rs786204788(T;T) |
Significance | Pathogenic |
Disease | Joubert syndrome |
Variation | info |
Gene | TCTN2 |
CLNDBN | Joubert syndrome |
Reversed | 0 |
HGVS | NC_000012.11:g.124191380T>A |
CLNSRC | |
CLNACC | RCV000169679.1, |