rs863225221
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs863225221(G;T) |
Make rs863225221(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 123695276 |
Gene | TCTN2 |
is a | snp |
is | mentioned by |
dbSNP | rs863225221 |
dbSNP (classic) | rs863225221 |
ClinGen | rs863225221 |
ebi | rs863225221 |
HLI | rs863225221 |
Exac | rs863225221 |
Gnomad | rs863225221 |
Varsome | rs863225221 |
LitVar | rs863225221 |
Map | rs863225221 |
PheGenI | rs863225221 |
Biobank | rs863225221 |
1000 genomes | rs863225221 |
hgdp | rs863225221 |
ensembl | rs863225221 |
geneview | rs863225221 |
scholar | rs863225221 |
rs863225221 | |
pharmgkb | rs863225221 |
gwascentral | rs863225221 |
openSNP | rs863225221 |
23andMe | rs863225221 |
SNPshot | rs863225221 |
SNPdbe | rs863225221 |
MSV3d | rs863225221 |
GWAS Ctlg | rs863225221 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863225221(T;T) |
Alt | rs863225221(T;T) |
Reference | Rs863225221(G;G) |
Significance | Pathogenic |
Disease | Joubert syndrome |
Variation | info |
Gene | TCTN2 |
CLNDBN | Joubert syndrome |
Reversed | 0 |
HGVS | NC_000012.11:g.124179823G>T |
CLNSRC | |
CLNACC | RCV000201712.1, |