rs28939668
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs28939668(A;A) |
Make rs28939668(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 10652533 |
Gene | JAG1 |
is a | snp |
is | mentioned by |
dbSNP | rs28939668 |
dbSNP (classic) | rs28939668 |
ClinGen | rs28939668 |
ebi | rs28939668 |
HLI | rs28939668 |
Exac | rs28939668 |
Gnomad | rs28939668 |
Varsome | rs28939668 |
LitVar | rs28939668 |
Map | rs28939668 |
PheGenI | rs28939668 |
Biobank | rs28939668 |
1000 genomes | rs28939668 |
hgdp | rs28939668 |
ensembl | rs28939668 |
geneview | rs28939668 |
scholar | rs28939668 |
rs28939668 | |
pharmgkb | rs28939668 |
gwascentral | rs28939668 |
openSNP | rs28939668 |
23andMe | rs28939668 |
SNPshot | rs28939668 |
SNPdbe | rs28939668 |
MSV3d | rs28939668 |
GWAS Ctlg | rs28939668 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs28939668(A;A) |
Alt | rs28939668(A;A) |
Reference | Rs28939668(G;G) |
Significance | Pathogenic |
Disease | Tetralogy of Fallot |
Variation | info |
Gene | JAG1 |
CLNDBN | Tetralogy of Fallot |
Reversed | 1 |
HGVS | NC_000020.10:g.10633181C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000008063.2, |