rs146816935
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 6 | Lynch syndrome, pathogenic mutation |
Make rs146816935(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 2 |
Position | 47798875 |
Gene | MSH6 |
is a | snp |
is | mentioned by |
dbSNP | rs146816935 |
dbSNP (classic) | rs146816935 |
ClinGen | rs146816935 |
ebi | rs146816935 |
HLI | rs146816935 |
Exac | rs146816935 |
Gnomad | rs146816935 |
Varsome | rs146816935 |
LitVar | rs146816935 |
Map | rs146816935 |
PheGenI | rs146816935 |
Biobank | rs146816935 |
1000 genomes | rs146816935 |
hgdp | rs146816935 |
ensembl | rs146816935 |
geneview | rs146816935 |
scholar | rs146816935 |
rs146816935 | |
pharmgkb | rs146816935 |
gwascentral | rs146816935 |
openSNP | rs146816935 |
23andMe | rs146816935 |
SNPshot | rs146816935 |
SNPdbe | rs146816935 |
MSV3d | rs146816935 |
GWAS Ctlg | rs146816935 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs146816935(T;T) |
Alt | rs146816935(T;T) |
Reference | Rs146816935(C;C) |
Significance | Pathogenic |
Disease | Lynch syndrome Hereditary cancer-predisposing syndrome not provided |
Variation | info |
Gene | MSH6 |
CLNDBN | Lynch syndrome Hereditary cancer-predisposing syndrome not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.48026014C>T |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000075043.2, RCV000130865.5, RCV000149892.2, |