rs267607712
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 6 | Lynch syndrome |
(A;T) | 4 | linked to certain hereditary cancers |
Make rs267607712(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 3 |
Position | 36996617 |
Gene | MLH1 |
is a | snp |
is | mentioned by |
dbSNP | rs267607712 |
dbSNP (classic) | rs267607712 |
ClinGen | rs267607712 |
ebi | rs267607712 |
HLI | rs267607712 |
Exac | rs267607712 |
Gnomad | rs267607712 |
Varsome | rs267607712 |
LitVar | rs267607712 |
Map | rs267607712 |
PheGenI | rs267607712 |
Biobank | rs267607712 |
1000 genomes | rs267607712 |
hgdp | rs267607712 |
ensembl | rs267607712 |
geneview | rs267607712 |
scholar | rs267607712 |
rs267607712 | |
pharmgkb | rs267607712 |
gwascentral | rs267607712 |
openSNP | rs267607712 |
23andMe | rs267607712 |
SNPshot | rs267607712 |
SNPdbe | rs267607712 |
MSV3d | rs267607712 |
GWAS Ctlg | rs267607712 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs267607712(G;G) rs267607712(T;T) |
Alt | rs267607712(G;G) rs267607712(T;T) |
Reference | Rs267607712(A;A) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome Lynch syndrome not provided |
Variation | info |
Gene | MLH1 |
CLNDBN | Hereditary cancer-predisposing syndrome Lynch syndrome not provided |
Reversed | 0 |
HGVS | NC_000003.11:g.37038108A>G |
CLNSRC | Ambry Genetics ClinVar |
CLNACC | RCV000132299.3, RCV000200647.1, RCV000478069.1, |