rs267607767
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 6 | Lynch syndrome, pathogenic mutation |
Make rs267607767(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 37012009 |
Gene | MLH1 |
is a | snp |
is | mentioned by |
dbSNP | rs267607767 |
dbSNP (classic) | rs267607767 |
ClinGen | rs267607767 |
ebi | rs267607767 |
HLI | rs267607767 |
Exac | rs267607767 |
Gnomad | rs267607767 |
Varsome | rs267607767 |
LitVar | rs267607767 |
Map | rs267607767 |
PheGenI | rs267607767 |
Biobank | rs267607767 |
1000 genomes | rs267607767 |
hgdp | rs267607767 |
ensembl | rs267607767 |
geneview | rs267607767 |
scholar | rs267607767 |
rs267607767 | |
pharmgkb | rs267607767 |
gwascentral | rs267607767 |
openSNP | rs267607767 |
23andMe | rs267607767 |
SNPshot | rs267607767 |
SNPdbe | rs267607767 |
MSV3d | rs267607767 |
GWAS Ctlg | rs267607767 |
Max Magnitude | 6 |
Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer [PMID 27978560]
ClinVar | |
---|---|
Risk | rs267607767(G;G) |
Alt | rs267607767(G;G) |
Reference | Rs267607767(A;A) |
Significance | Pathogenic |
Disease | Lynch syndrome Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | MLH1 |
CLNDBN | Lynch syndrome Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000003.11:g.37053500A>G |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000075780.4, RCV000160526.4, RCV000212522.2, |