rs759130031
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs759130031(C;T) |
Make rs759130031(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 11 |
Position | 94476288 |
Gene | MRE11A |
is a | snp |
is | mentioned by |
dbSNP | rs759130031 |
dbSNP (classic) | rs759130031 |
ClinGen | rs759130031 |
ebi | rs759130031 |
HLI | rs759130031 |
Exac | rs759130031 |
Gnomad | rs759130031 |
Varsome | rs759130031 |
LitVar | rs759130031 |
Map | rs759130031 |
PheGenI | rs759130031 |
Biobank | rs759130031 |
1000 genomes | rs759130031 |
hgdp | rs759130031 |
ensembl | rs759130031 |
geneview | rs759130031 |
scholar | rs759130031 |
rs759130031 | |
pharmgkb | rs759130031 |
gwascentral | rs759130031 |
openSNP | rs759130031 |
23andMe | rs759130031 |
SNPshot | rs759130031 |
SNPdbe | rs759130031 |
MSV3d | rs759130031 |
GWAS Ctlg | rs759130031 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs759130031(T;T) |
Alt | rs759130031(T;T) |
Reference | Rs759130031(C;C) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Ataxia-telangiectasia-like disorder 1 |
Variation | info |
Gene | MRE11A |
CLNDBN | Hereditary cancer-predisposing syndrome Ataxia-telangiectasia-like disorder 1 |
Reversed | 0 |
HGVS | NC_000011.9:g.94209454C>T |
CLNSRC | |
CLNACC | RCV000217276.1, RCV000410656.1, |