rs267607907
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;AA) | 6 | Lynch syndrome, pathogenic mutation |
(AA;AA) | 0 | common in clinvar |
Make rs267607907(-;-) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 37050634 |
Gene | MLH1 |
is a | snp |
is | mentioned by |
dbSNP | rs267607907 |
dbSNP (classic) | rs267607907 |
ClinGen | rs267607907 |
ebi | rs267607907 |
HLI | rs267607907 |
Exac | rs267607907 |
Gnomad | rs267607907 |
Varsome | rs267607907 |
LitVar | rs267607907 |
Map | rs267607907 |
PheGenI | rs267607907 |
Biobank | rs267607907 |
1000 genomes | rs267607907 |
hgdp | rs267607907 |
ensembl | rs267607907 |
geneview | rs267607907 |
scholar | rs267607907 |
rs267607907 | |
pharmgkb | rs267607907 |
gwascentral | rs267607907 |
openSNP | rs267607907 |
23andMe | rs267607907 |
SNPshot | rs267607907 |
SNPdbe | rs267607907 |
MSV3d | rs267607907 |
GWAS Ctlg | rs267607907 |
Max Magnitude | 6 |
Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer [PMID 27978560]
ClinVar | |
---|---|
Risk | rs267607907(-;-) |
Alt | rs267607907(-;-) |
Reference | Rs267607907(AA;AA) |
Significance | Pathogenic |
Disease | Lynch syndrome not provided Hereditary cancer-predisposing syndrome Lynch syndrome II Lynch syndrome I |
Variation | info |
Gene | MLH1 |
CLNDBN | Lynch syndrome not provided Hereditary cancer-predisposing syndrome Lynch syndrome II Lynch syndrome I |
Reversed | 0 |
HGVS | NC_000003.11:g.37092125_37092126delAA |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000075587.2, RCV000202198.1, RCV000213486.1, RCV000409988.1, RCV000490564.1, |