rs267608055
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;T) | 6 | Lynch syndrome, pathogenic mutation |
(G;T) | 6 | Lynch syndrome |
(T;T) | 0 | common in clinvar |
Make rs267608055(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47799282 |
Gene | MSH6 |
is a | snp |
is | mentioned by |
dbSNP | rs267608055 |
dbSNP (classic) | rs267608055 |
ClinGen | rs267608055 |
ebi | rs267608055 |
HLI | rs267608055 |
Exac | rs267608055 |
Gnomad | rs267608055 |
Varsome | rs267608055 |
LitVar | rs267608055 |
Map | rs267608055 |
PheGenI | rs267608055 |
Biobank | rs267608055 |
1000 genomes | rs267608055 |
hgdp | rs267608055 |
ensembl | rs267608055 |
geneview | rs267608055 |
scholar | rs267608055 |
rs267608055 | |
pharmgkb | rs267608055 |
gwascentral | rs267608055 |
openSNP | rs267608055 |
23andMe | rs267608055 |
SNPshot | rs267608055 |
SNPdbe | rs267608055 |
MSV3d | rs267608055 |
GWAS Ctlg | rs267608055 |
Max Magnitude | 6 |
c.1299T>A (p.Tyr433Ter)
23andMe name: i5046109
ClinVar | |
---|---|
Risk | rs267608055(A;A) rs267608055(G;G) |
Alt | rs267608055(A;A) rs267608055(G;G) |
Reference | Rs267608055(T;T) |
Significance | Pathogenic |
Disease | Lynch syndrome Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | MSH6 |
CLNDBN | Lynch syndrome Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.48026421T>A; NC_000002.11:g.48026421T>G |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000074647.2, RCV000491745.1, |