rs187433682
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs187433682(A;A) |
Make rs187433682(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 123694859 |
Gene | TCTN2 |
is a | snp |
is | mentioned by |
dbSNP | rs187433682 |
dbSNP (classic) | rs187433682 |
ClinGen | rs187433682 |
ebi | rs187433682 |
HLI | rs187433682 |
Exac | rs187433682 |
Gnomad | rs187433682 |
Varsome | rs187433682 |
LitVar | rs187433682 |
Map | rs187433682 |
PheGenI | rs187433682 |
Biobank | rs187433682 |
1000 genomes | rs187433682 |
hgdp | rs187433682 |
ensembl | rs187433682 |
geneview | rs187433682 |
scholar | rs187433682 |
rs187433682 | |
pharmgkb | rs187433682 |
gwascentral | rs187433682 |
openSNP | rs187433682 |
23andMe | rs187433682 |
SNPshot | rs187433682 |
SNPdbe | rs187433682 |
MSV3d | rs187433682 |
GWAS Ctlg | rs187433682 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs187433682(A;A) |
Alt | rs187433682(A;A) |
Reference | Rs187433682(G;G) |
Significance | Other |
Disease | Joubert syndrome Meckel-Gruber syndrome |
Variation | info |
Gene | TCTN2 |
CLNDBN | Joubert syndrome Meckel-Gruber syndrome |
Reversed | 0 |
HGVS | NC_000012.11:g.124179406G>A |
CLNSRC | |
CLNACC | RCV000201680.3, RCV000310999.1, |