rs201010803
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs201010803(A;A) |
Make rs201010803(A;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 123704670 |
Gene | TCTN2 |
is a | snp |
is | mentioned by |
dbSNP | rs201010803 |
dbSNP (classic) | rs201010803 |
ClinGen | rs201010803 |
ebi | rs201010803 |
HLI | rs201010803 |
Exac | rs201010803 |
Gnomad | rs201010803 |
Varsome | rs201010803 |
LitVar | rs201010803 |
Map | rs201010803 |
PheGenI | rs201010803 |
Biobank | rs201010803 |
1000 genomes | rs201010803 |
hgdp | rs201010803 |
ensembl | rs201010803 |
geneview | rs201010803 |
scholar | rs201010803 |
rs201010803 | |
pharmgkb | rs201010803 |
gwascentral | rs201010803 |
openSNP | rs201010803 |
23andMe | rs201010803 |
SNPshot | rs201010803 |
SNPdbe | rs201010803 |
MSV3d | rs201010803 |
GWAS Ctlg | rs201010803 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201010803(A;A) |
Alt | rs201010803(A;A) |
Reference | Rs201010803(T;T) |
Significance | Pathogenic |
Disease | Joubert syndrome |
Variation | info |
Gene | TCTN2 |
CLNDBN | Joubert syndrome |
Reversed | 0 |
HGVS | NC_000012.11:g.124189217T>A |
CLNSRC | |
CLNACC | RCV000201600.1, |