rs267608072
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;TG) | 6 | Lynch syndrome, pathogenic mutation |
(TG;TG) | 0 | common in clinvar |
Make rs267608072(-;-) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47798745 |
Gene | MSH6 |
is a | snp |
is | mentioned by |
dbSNP | rs267608072 |
dbSNP (classic) | rs267608072 |
ClinGen | rs267608072 |
ebi | rs267608072 |
HLI | rs267608072 |
Exac | rs267608072 |
Gnomad | rs267608072 |
Varsome | rs267608072 |
LitVar | rs267608072 |
Map | rs267608072 |
PheGenI | rs267608072 |
Biobank | rs267608072 |
1000 genomes | rs267608072 |
hgdp | rs267608072 |
ensembl | rs267608072 |
geneview | rs267608072 |
scholar | rs267608072 |
rs267608072 | |
pharmgkb | rs267608072 |
gwascentral | rs267608072 |
openSNP | rs267608072 |
23andMe | rs267608072 |
SNPshot | rs267608072 |
SNPdbe | rs267608072 |
MSV3d | rs267608072 |
GWAS Ctlg | rs267608072 |
Max Magnitude | 6 |
c.762_763delTG (p.Ser256Terfs)
23andMe name: i5037884
ClinVar | |
---|---|
Risk | rs267608072(-;-) |
Alt | rs267608072(-;-) |
Reference | Rs267608072(TG;TG) |
Significance | Pathogenic |
Disease | Lynch syndrome |
Variation | info |
Gene | MSH6 |
CLNDBN | Lynch syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.48025884_48025885delTG |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000075036.2, |