rs28989187
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs28989187(A;A) |
Make rs28989187(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 15 |
Position | 40202609 |
Gene | BUB1B, LOC107984763 |
is a | snp |
is | mentioned by |
dbSNP | rs28989187 |
dbSNP (classic) | rs28989187 |
ClinGen | rs28989187 |
ebi | rs28989187 |
HLI | rs28989187 |
Exac | rs28989187 |
Gnomad | rs28989187 |
Varsome | rs28989187 |
LitVar | rs28989187 |
Map | rs28989187 |
PheGenI | rs28989187 |
Biobank | rs28989187 |
1000 genomes | rs28989187 |
hgdp | rs28989187 |
ensembl | rs28989187 |
geneview | rs28989187 |
scholar | rs28989187 |
rs28989187 | |
pharmgkb | rs28989187 |
gwascentral | rs28989187 |
openSNP | rs28989187 |
23andMe | rs28989187 |
SNPshot | rs28989187 |
SNPdbe | rs28989187 |
MSV3d | rs28989187 |
GWAS Ctlg | rs28989187 |
GMAF | 0.005051 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs28989187(A;A) |
Alt | rs28989187(A;A) |
Reference | Rs28989187(G;G) |
Significance | Other |
Disease | Mosaic variegated aneuploidy syndrome Premature chromatid separation trait |
Variation | info |
Gene | BUB1B |
CLNDBN | Mosaic variegated aneuploidy syndrome Premature chromatid separation trait |
Reversed | 0 |
HGVS | NC_000015.9:g.40494810G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000007164.3, RCV000007165.4, |