rs876658211
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;A) | 6 | Possible miscall by 23andMe; otherwise: Lynch syndrome, pathogenic mutation |
Make rs876658211(A;A) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 2 |
Position | 47482824 |
Gene | MSH2 |
is a | snp |
is | mentioned by |
dbSNP | rs876658211 |
dbSNP (classic) | rs876658211 |
ClinGen | rs876658211 |
ebi | rs876658211 |
HLI | rs876658211 |
Exac | rs876658211 |
Gnomad | rs876658211 |
Varsome | rs876658211 |
LitVar | rs876658211 |
Map | rs876658211 |
PheGenI | rs876658211 |
Biobank | rs876658211 |
1000 genomes | rs876658211 |
hgdp | rs876658211 |
ensembl | rs876658211 |
geneview | rs876658211 |
scholar | rs876658211 |
rs876658211 | |
pharmgkb | rs876658211 |
gwascentral | rs876658211 |
openSNP | rs876658211 |
23andMe | rs876658211 |
SNPshot | rs876658211 |
SNPdbe | rs876658211 |
MSV3d | rs876658211 |
GWAS Ctlg | rs876658211 |
Max Magnitude | 6 |
aka c.2680dupA
considered pathogenic for hereditary cancer-predisposing syndrome (presumably equivalent to Lynch syndrome) in ClinVar; one of the most frequent MSH2 gene mutations noted in gnomAD
23andMe name: i5037796
ClinVar | |
---|---|
Risk | rs876658211(A;A) |
Alt | rs876658211(A;A) |
Reference | Rs876658211(-;-) |
Significance | Pathogenic |
Disease | Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | MSH2 |
CLNDBN | Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.47709963dupA |
CLNSRC | |
CLNACC | RCV000214664.1, |