rs267607789
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;G) | 6 | Lynch syndrome, pathogenic mutation |
(C;T) | 6 | Lynch syndrome, pathogenic mutation |
Make rs267607789(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 37014545 |
Gene | MLH1 |
is a | snp |
is | mentioned by |
dbSNP | rs267607789 |
dbSNP (classic) | rs267607789 |
ClinGen | rs267607789 |
ebi | rs267607789 |
HLI | rs267607789 |
Exac | rs267607789 |
Gnomad | rs267607789 |
Varsome | rs267607789 |
LitVar | rs267607789 |
Map | rs267607789 |
PheGenI | rs267607789 |
Biobank | rs267607789 |
1000 genomes | rs267607789 |
hgdp | rs267607789 |
ensembl | rs267607789 |
geneview | rs267607789 |
scholar | rs267607789 |
rs267607789 | |
pharmgkb | rs267607789 |
gwascentral | rs267607789 |
openSNP | rs267607789 |
23andMe | rs267607789 |
SNPshot | rs267607789 |
SNPdbe | rs267607789 |
MSV3d | rs267607789 |
GWAS Ctlg | rs267607789 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs267607789(A;A) rs267607789(G;G) rs267607789(T;T) |
Alt | rs267607789(A;A) rs267607789(G;G) rs267607789(T;T) |
Reference | Rs267607789(C;C) |
Significance | Pathogenic |
Disease | Lynch syndrome not provided Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | MLH1 |
CLNDBN | Lynch syndrome not provided Hereditary cancer-predisposing syndrome |
Reversed | 1 |
HGVS | NC_000003.11:g.37056036G>A; NC_000003.11:g.37056036G>C; NC_000003.11:g.37056036G>T |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000075847.2, RCV000214767.1, RCV000075848.2, RCV000129379.2, |