rs267607713
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;G) | 6 | Lynch syndrome, pathogenic mutation |
(G;G) | 0 | common in clinvar |
Make rs267607713(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 36996623 |
Gene | MLH1 |
is a | snp |
is | mentioned by |
dbSNP | rs267607713 |
dbSNP (classic) | rs267607713 |
ClinGen | rs267607713 |
ebi | rs267607713 |
HLI | rs267607713 |
Exac | rs267607713 |
Gnomad | rs267607713 |
Varsome | rs267607713 |
LitVar | rs267607713 |
Map | rs267607713 |
PheGenI | rs267607713 |
Biobank | rs267607713 |
1000 genomes | rs267607713 |
hgdp | rs267607713 |
ensembl | rs267607713 |
geneview | rs267607713 |
scholar | rs267607713 |
rs267607713 | |
pharmgkb | rs267607713 |
gwascentral | rs267607713 |
openSNP | rs267607713 |
23andMe | rs267607713 |
SNPshot | rs267607713 |
SNPdbe | rs267607713 |
MSV3d | rs267607713 |
GWAS Ctlg | rs267607713 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs267607713(C;C) |
Alt | rs267607713(C;C) |
Reference | Rs267607713(G;G) |
Significance | Pathogenic |
Disease | Lynch syndrome I not provided |
Variation | info |
Gene | MLH1 |
CLNDBN | Lynch syndrome I not provided |
Reversed | 0 |
HGVS | NC_000003.11:g.37038114G>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000075155.2, RCV000255808.1, |