rs730880326
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs730880326(-;A) |
Make rs730880326(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 15 |
Position | 57253367 |
Gene | TCF12 |
is a | snp |
is | mentioned by |
dbSNP | rs730880326 |
dbSNP (classic) | rs730880326 |
ClinGen | rs730880326 |
ebi | rs730880326 |
HLI | rs730880326 |
Exac | rs730880326 |
Gnomad | rs730880326 |
Varsome | rs730880326 |
LitVar | rs730880326 |
Map | rs730880326 |
PheGenI | rs730880326 |
Biobank | rs730880326 |
1000 genomes | rs730880326 |
hgdp | rs730880326 |
ensembl | rs730880326 |
geneview | rs730880326 |
scholar | rs730880326 |
rs730880326 | |
pharmgkb | rs730880326 |
gwascentral | rs730880326 |
openSNP | rs730880326 |
23andMe | rs730880326 |
SNPshot | rs730880326 |
SNPdbe | rs730880326 |
MSV3d | rs730880326 |
GWAS Ctlg | rs730880326 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880326(A;A) |
Alt | rs730880326(A;A) |
Reference | Rs730880326(-;-) |
Significance | Pathogenic |
Disease | Craniosynostosis 3 |
Variation | info |
Gene | TCF12 |
CLNDBN | Craniosynostosis 3 |
Reversed | 0 |
HGVS | NC_000015.9:g.57545565dupA |
CLNSRC | |
CLNACC | RCV000157616.1, |