rs267608131
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;T) | 6 | Lynch syndrome, pathogenic mutation |
(T;T) | 0 | common in clinvar |
Make rs267608131(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47806653 |
Gene | FBXO11, MSH6 |
is a | snp |
is | mentioned by |
dbSNP | rs267608131 |
dbSNP (classic) | rs267608131 |
ClinGen | rs267608131 |
ebi | rs267608131 |
HLI | rs267608131 |
Exac | rs267608131 |
Gnomad | rs267608131 |
Varsome | rs267608131 |
LitVar | rs267608131 |
Map | rs267608131 |
PheGenI | rs267608131 |
Biobank | rs267608131 |
1000 genomes | rs267608131 |
hgdp | rs267608131 |
ensembl | rs267608131 |
geneview | rs267608131 |
scholar | rs267608131 |
rs267608131 | |
pharmgkb | rs267608131 |
gwascentral | rs267608131 |
openSNP | rs267608131 |
23andMe | rs267608131 |
SNPshot | rs267608131 |
SNPdbe | rs267608131 |
MSV3d | rs267608131 |
GWAS Ctlg | rs267608131 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs267608131(C;C) |
Alt | rs267608131(C;C) |
Reference | Rs267608131(T;T) |
Significance | Pathogenic |
Disease | Lynch syndrome Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | FBXO11 MSH6 |
CLNDBN | Lynch syndrome Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.48033792T>C |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000074969.2, RCV000491060.1, |