rs267607929
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;TAGATAATTCAA) | 6 | Lynch syndrome, pathogenic mutation |
(AATAGATAATTC;AATAGATAATTC) | 0 | common in clinvar |
(TAGATAATTCAA;TAGATAATTCAA) | 0 | common in clinvar |
Make rs267607929(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47412411 |
Gene | MSH2 |
is a | snp |
is | mentioned by |
dbSNP | rs267607929 |
dbSNP (classic) | rs267607929 |
ClinGen | rs267607929 |
ebi | rs267607929 |
HLI | rs267607929 |
Exac | rs267607929 |
Gnomad | rs267607929 |
Varsome | rs267607929 |
LitVar | rs267607929 |
Map | rs267607929 |
PheGenI | rs267607929 |
Biobank | rs267607929 |
1000 genomes | rs267607929 |
hgdp | rs267607929 |
ensembl | rs267607929 |
geneview | rs267607929 |
scholar | rs267607929 |
rs267607929 | |
pharmgkb | rs267607929 |
gwascentral | rs267607929 |
openSNP | rs267607929 |
23andMe | rs267607929 |
SNPshot | rs267607929 |
SNPdbe | rs267607929 |
MSV3d | rs267607929 |
GWAS Ctlg | rs267607929 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs267607929(-;-) |
Alt | rs267607929(-;-) |
Reference | Rs267607929(AATAGATAATTC;AATAGATAATTC) |
Significance | Probable-Pathogenic |
Disease | Lynch syndrome |
Variation | info |
Gene | MSH2 |
CLNDBN | Lynch syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.47639550_47639561delTAGATAATTCAA |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000076667.2, |