rs267607718
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5 | linked to certain hereditary cancers |
(G;G) | 0 | common in clinvar |
(G;T) | 6 | Lynch syndrome, pathogenic mutation |
Make rs267607718(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 36996710 |
Gene | MLH1 |
is a | snp |
is | mentioned by |
dbSNP | rs267607718 |
dbSNP (classic) | rs267607718 |
ClinGen | rs267607718 |
ebi | rs267607718 |
HLI | rs267607718 |
Exac | rs267607718 |
Gnomad | rs267607718 |
Varsome | rs267607718 |
LitVar | rs267607718 |
Map | rs267607718 |
PheGenI | rs267607718 |
Biobank | rs267607718 |
1000 genomes | rs267607718 |
hgdp | rs267607718 |
ensembl | rs267607718 |
geneview | rs267607718 |
scholar | rs267607718 |
rs267607718 | |
pharmgkb | rs267607718 |
gwascentral | rs267607718 |
openSNP | rs267607718 |
23andMe | rs267607718 |
SNPshot | rs267607718 |
SNPdbe | rs267607718 |
MSV3d | rs267607718 |
GWAS Ctlg | rs267607718 |
Max Magnitude | 6 |
Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer [PMID 27978560]
ClinVar | |
---|---|
Risk | rs267607718(A;A) rs267607718(T;T) |
Alt | rs267607718(A;A) rs267607718(T;T) |
Reference | Rs267607718(G;G) |
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.37038201G>A; NC_000003.11:g.37038201G>T |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000075505.2, RCV000128866.3, RCV000202020.1, RCV000075506.2, |