rs41298838
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs41298838(A;A) |
Make rs41298838(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 22 |
Position | 19765921 |
Gene | TBX1 |
is a | snp |
is | mentioned by |
dbSNP | rs41298838 |
dbSNP (classic) | rs41298838 |
ClinGen | rs41298838 |
ebi | rs41298838 |
HLI | rs41298838 |
Exac | rs41298838 |
Gnomad | rs41298838 |
Varsome | rs41298838 |
LitVar | rs41298838 |
Map | rs41298838 |
PheGenI | rs41298838 |
Biobank | rs41298838 |
1000 genomes | rs41298838 |
hgdp | rs41298838 |
ensembl | rs41298838 |
geneview | rs41298838 |
scholar | rs41298838 |
rs41298838 | |
pharmgkb | rs41298838 |
gwascentral | rs41298838 |
openSNP | rs41298838 |
23andMe | rs41298838 |
SNPshot | rs41298838 |
SNPdbe | rs41298838 |
MSV3d | rs41298838 |
GWAS Ctlg | rs41298838 |
GMAF | 0.01056 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs41298838(A;A) |
Alt | rs41298838(A;A) |
Reference | Rs41298838(G;G) |
Significance | Pathogenic |
Disease | DiGeorge sequence |
Variation | info |
Gene | TBX1 |
CLNDBN | DiGeorge sequence |
Reversed | 0 |
HGVS | NC_000022.10:g.19753444G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000008000.3, |