rs267608095
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(-;T) | 6 | Lynch syndrome, pathogenic mutation |
Make rs267608095(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47803520 |
Gene | MSH6 |
is a | snp |
is | mentioned by |
dbSNP | rs267608095 |
dbSNP (classic) | rs267608095 |
ClinGen | rs267608095 |
ebi | rs267608095 |
HLI | rs267608095 |
Exac | rs267608095 |
Gnomad | rs267608095 |
Varsome | rs267608095 |
LitVar | rs267608095 |
Map | rs267608095 |
PheGenI | rs267608095 |
Biobank | rs267608095 |
1000 genomes | rs267608095 |
hgdp | rs267608095 |
ensembl | rs267608095 |
geneview | rs267608095 |
scholar | rs267608095 |
rs267608095 | |
pharmgkb | rs267608095 |
gwascentral | rs267608095 |
openSNP | rs267608095 |
23andMe | rs267608095 |
SNPshot | rs267608095 |
SNPdbe | rs267608095 |
MSV3d | rs267608095 |
GWAS Ctlg | rs267608095 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs267608095(T;T) |
Alt | rs267608095(T;T) |
Reference | Rs267608095(-;-) |
Significance | Pathogenic |
Disease | Lynch syndrome |
Variation | info |
Gene | MSH6 |
CLNDBN | Lynch syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.48030659dupT |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000074834.2, |