rs201827132
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs201827132(G;T) |
Make rs201827132(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 123686884 |
Gene | TCTN2 |
is a | snp |
is | mentioned by |
dbSNP | rs201827132 |
dbSNP (classic) | rs201827132 |
ClinGen | rs201827132 |
ebi | rs201827132 |
HLI | rs201827132 |
Exac | rs201827132 |
Gnomad | rs201827132 |
Varsome | rs201827132 |
LitVar | rs201827132 |
Map | rs201827132 |
PheGenI | rs201827132 |
Biobank | rs201827132 |
1000 genomes | rs201827132 |
hgdp | rs201827132 |
ensembl | rs201827132 |
geneview | rs201827132 |
scholar | rs201827132 |
rs201827132 | |
pharmgkb | rs201827132 |
gwascentral | rs201827132 |
openSNP | rs201827132 |
23andMe | rs201827132 |
SNPshot | rs201827132 |
SNPdbe | rs201827132 |
MSV3d | rs201827132 |
GWAS Ctlg | rs201827132 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201827132(A;A) rs201827132(T;T) |
Alt | rs201827132(A;A) rs201827132(T;T) |
Reference | Rs201827132(G;G) |
Significance | Pathogenic |
Disease | Joubert syndrome |
Variation | info |
Gene | TCTN2 |
CLNDBN | Joubert syndrome |
Reversed | 0 |
HGVS | NC_000012.11:g.124171431G>T |
CLNSRC | |
CLNACC | RCV000201719.1, |