rs267607944
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;G) | 6 | Likely miscall in Ancestry data; otherwise, Lynch syndrome, pathogenic mutation |
(G;G) | 0 | common in clinvar |
(G;T) | 6 | Lynch syndrome, pathogenic mutation |
Make rs267607944(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47429741 |
Gene | MSH2 |
is a | snp |
is | mentioned by |
dbSNP | rs267607944 |
dbSNP (classic) | rs267607944 |
ClinGen | rs267607944 |
ebi | rs267607944 |
HLI | rs267607944 |
Exac | rs267607944 |
Gnomad | rs267607944 |
Varsome | rs267607944 |
LitVar | rs267607944 |
Map | rs267607944 |
PheGenI | rs267607944 |
Biobank | rs267607944 |
1000 genomes | rs267607944 |
hgdp | rs267607944 |
ensembl | rs267607944 |
geneview | rs267607944 |
scholar | rs267607944 |
rs267607944 | |
pharmgkb | rs267607944 |
gwascentral | rs267607944 |
openSNP | rs267607944 |
23andMe | rs267607944 |
SNPshot | rs267607944 |
SNPdbe | rs267607944 |
MSV3d | rs267607944 |
GWAS Ctlg | rs267607944 |
Max Magnitude | 6 |
aka c.1077-1G>C (or, c.1077-1G>T)
Two ClinVar submitters assess c.1077-1G>C as pathogenic or likely to be pathogenic for Lynch Syndrome; the c.1077-1G>T mutation is assessed by one submitter as likely to be pathogenic.
ClinVar | |
---|---|
Risk | rs267607944(C;C) rs267607944(T;T) |
Alt | rs267607944(C;C) rs267607944(T;T) |
Reference | Rs267607944(G;G) |
Significance | Pathogenic |
Disease | Lynch syndrome Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | MSH2 |
CLNDBN | Lynch syndrome Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.47656880G>C; NC_000002.11:g.47656880G>T |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000076019.2, RCV000491682.1, RCV000076020.2, |