rs137852759
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs137852759(C;T) |
Make rs137852759(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 94437206 |
Gene | MRE11A |
is a | snp |
is | mentioned by |
dbSNP | rs137852759 |
dbSNP (classic) | rs137852759 |
ClinGen | rs137852759 |
ebi | rs137852759 |
HLI | rs137852759 |
Exac | rs137852759 |
Gnomad | rs137852759 |
Varsome | rs137852759 |
LitVar | rs137852759 |
Map | rs137852759 |
PheGenI | rs137852759 |
Biobank | rs137852759 |
1000 genomes | rs137852759 |
hgdp | rs137852759 |
ensembl | rs137852759 |
geneview | rs137852759 |
scholar | rs137852759 |
rs137852759 | |
pharmgkb | rs137852759 |
gwascentral | rs137852759 |
openSNP | rs137852759 |
23andMe | rs137852759 |
SNPshot | rs137852759 |
SNPdbe | rs137852759 |
MSV3d | rs137852759 |
GWAS Ctlg | rs137852759 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137852759(A;A) rs137852759(T;T) |
Alt | rs137852759(A;A) rs137852759(T;T) |
Reference | Rs137852759(C;C) |
Significance | Pathogenic |
Disease | Ataxia-telangiectasia-like disorder 1 |
Variation | info |
Gene | MRE11A |
CLNDBN | Ataxia-telangiectasia-like disorder 1 |
Reversed | 1 |
HGVS | NC_000011.9:g.94170372G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009327.2, |