rs56079734
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in complete genomics |
(C;T) | 0 | benign polymorphism |
Make rs56079734(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 40165136 |
Gene | BUB1B |
is a | snp |
is | mentioned by |
dbSNP | rs56079734 |
dbSNP (classic) | rs56079734 |
ClinGen | rs56079734 |
ebi | rs56079734 |
HLI | rs56079734 |
Exac | rs56079734 |
Gnomad | rs56079734 |
Varsome | rs56079734 |
LitVar | rs56079734 |
Map | rs56079734 |
PheGenI | rs56079734 |
Biobank | rs56079734 |
1000 genomes | rs56079734 |
hgdp | rs56079734 |
ensembl | rs56079734 |
geneview | rs56079734 |
scholar | rs56079734 |
rs56079734 | |
pharmgkb | rs56079734 |
gwascentral | rs56079734 |
openSNP | rs56079734 |
23andMe | rs56079734 |
SNPshot | rs56079734 |
SNPdbe | rs56079734 |
MSV3d | rs56079734 |
GWAS Ctlg | rs56079734 |
GMAF | 0.01791 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs56079734(T;T) |
Alt | rs56079734(T;T) |
Reference | Rs56079734(C;C) |
Significance | Pathogenic |
Disease | Carcinoma of colon not specified Mosaic variegated aneuploidy syndrome |
Variation | info |
Gene | BUB1B |
CLNDBN | Carcinoma of colon not specified Mosaic variegated aneuploidy syndrome |
Reversed | 0 |
HGVS | NC_000015.9:g.40457337C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000007150.4, RCV000120422.1, RCV000470671.1, |