rs863225390
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;A) | 6 | Lynch syndrome |
Make rs863225390(A;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 47463038 |
Gene | MSH2 |
is a | snp |
is | mentioned by |
dbSNP | rs863225390 |
dbSNP (classic) | rs863225390 |
ClinGen | rs863225390 |
ebi | rs863225390 |
HLI | rs863225390 |
Exac | rs863225390 |
Gnomad | rs863225390 |
Varsome | rs863225390 |
LitVar | rs863225390 |
Map | rs863225390 |
PheGenI | rs863225390 |
Biobank | rs863225390 |
1000 genomes | rs863225390 |
hgdp | rs863225390 |
ensembl | rs863225390 |
geneview | rs863225390 |
scholar | rs863225390 |
rs863225390 | |
pharmgkb | rs863225390 |
gwascentral | rs863225390 |
openSNP | rs863225390 |
23andMe | rs863225390 |
SNPshot | rs863225390 |
SNPdbe | rs863225390 |
MSV3d | rs863225390 |
GWAS Ctlg | rs863225390 |
Max Magnitude | 6 |
aka c.1394dupA as well as c.1394delA; both are considered in ClinVar to be pathogenic for Lynch syndrome
ClinVar | |
---|---|
Risk | rs863225390(A;A) |
Alt | rs863225390(A;A) |
Reference | Rs863225390(-;-) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | MSH2 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.47690177dupA |
CLNSRC | |
CLNACC | RCV000202241.1, |