rs547940069
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs547940069(A;A) |
Make rs547940069(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 20 |
Position | 32807751 |
Gene | DNMT3B |
is a | snp |
is | mentioned by |
dbSNP | rs547940069 |
dbSNP (classic) | rs547940069 |
ClinGen | rs547940069 |
ebi | rs547940069 |
HLI | rs547940069 |
Exac | rs547940069 |
Gnomad | rs547940069 |
Varsome | rs547940069 |
LitVar | rs547940069 |
Map | rs547940069 |
PheGenI | rs547940069 |
Biobank | rs547940069 |
1000 genomes | rs547940069 |
hgdp | rs547940069 |
ensembl | rs547940069 |
geneview | rs547940069 |
scholar | rs547940069 |
rs547940069 | |
pharmgkb | rs547940069 |
gwascentral | rs547940069 |
openSNP | rs547940069 |
23andMe | rs547940069 |
SNPshot | rs547940069 |
SNPdbe | rs547940069 |
MSV3d | rs547940069 |
GWAS Ctlg | rs547940069 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs547940069(A;A) |
Alt | rs547940069(A;A) |
Reference | Rs547940069(G;G) |
Significance | Pathogenic |
Disease | Centromeric instability of chromosomes 1 |
Variation | info |
Gene | DNMT3B |
CLNDBN | Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency |
Reversed | 0 |
HGVS | NC_000020.10:g.31395557G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007133.4, |