rs267607690
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;A) | 6 | Lynch syndrome, pathogenic mutation |
(T;T) | 0 | common in clinvar |
Make rs267607690(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47478298 |
Gene | MSH2 |
is a | snp |
is | mentioned by |
dbSNP | rs267607690 |
dbSNP (classic) | rs267607690 |
ClinGen | rs267607690 |
ebi | rs267607690 |
HLI | rs267607690 |
Exac | rs267607690 |
Gnomad | rs267607690 |
Varsome | rs267607690 |
LitVar | rs267607690 |
Map | rs267607690 |
PheGenI | rs267607690 |
Biobank | rs267607690 |
1000 genomes | rs267607690 |
hgdp | rs267607690 |
ensembl | rs267607690 |
geneview | rs267607690 |
scholar | rs267607690 |
rs267607690 | |
pharmgkb | rs267607690 |
gwascentral | rs267607690 |
openSNP | rs267607690 |
23andMe | rs267607690 |
SNPshot | rs267607690 |
SNPdbe | rs267607690 |
MSV3d | rs267607690 |
GWAS Ctlg | rs267607690 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs267607690(A;A) rs267607690(AAT;AAT) |
Alt | rs267607690(A;A) rs267607690(AAT;AAT) |
Reference | Rs267607690(-;-) |
Significance | Pathogenic |
Disease | Lynch syndrome |
Variation | info |
Gene | MSH2 |
CLNDBN | Lynch syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.47705435_47705437dupAAT; NC_000002.11:g.47705437_47705438insA |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000076438.2, RCV000076440.2, |