rs121908940
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs121908940(A;A) |
Make rs121908940(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 32807793 |
Gene | DNMT3B |
is a | snp |
is | mentioned by |
dbSNP | rs121908940 |
dbSNP (classic) | rs121908940 |
ClinGen | rs121908940 |
ebi | rs121908940 |
HLI | rs121908940 |
Exac | rs121908940 |
Gnomad | rs121908940 |
Varsome | rs121908940 |
LitVar | rs121908940 |
Map | rs121908940 |
PheGenI | rs121908940 |
Biobank | rs121908940 |
1000 genomes | rs121908940 |
hgdp | rs121908940 |
ensembl | rs121908940 |
geneview | rs121908940 |
scholar | rs121908940 |
rs121908940 | |
pharmgkb | rs121908940 |
gwascentral | rs121908940 |
openSNP | rs121908940 |
23andMe | rs121908940 |
SNPshot | rs121908940 |
SNPdbe | rs121908940 |
MSV3d | rs121908940 |
GWAS Ctlg | rs121908940 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908940(A;A) rs121908940(T;T) |
Alt | rs121908940(A;A) rs121908940(T;T) |
Reference | Rs121908940(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.31395599G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000007126.3, |