rs121908945
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121908945(C;T) |
Make rs121908945(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 32780411 |
Gene | DNMT3B |
is a | snp |
is | mentioned by |
dbSNP | rs121908945 |
dbSNP (classic) | rs121908945 |
ClinGen | rs121908945 |
ebi | rs121908945 |
HLI | rs121908945 |
Exac | rs121908945 |
Gnomad | rs121908945 |
Varsome | rs121908945 |
LitVar | rs121908945 |
Map | rs121908945 |
PheGenI | rs121908945 |
Biobank | rs121908945 |
1000 genomes | rs121908945 |
hgdp | rs121908945 |
ensembl | rs121908945 |
geneview | rs121908945 |
scholar | rs121908945 |
rs121908945 | |
pharmgkb | rs121908945 |
gwascentral | rs121908945 |
openSNP | rs121908945 |
23andMe | rs121908945 |
SNPshot | rs121908945 |
SNPdbe | rs121908945 |
MSV3d | rs121908945 |
GWAS Ctlg | rs121908945 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908945(A;A) rs121908945(T;T) |
Alt | rs121908945(A;A) rs121908945(T;T) |
Reference | Rs121908945(C;C) |
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.31368217C>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000007135.3, |