rs267608098
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 6 | Lynch syndrome, pathogenic mutation |
(A;T) | 6 | Lynch syndrome |
Make rs267608098(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47804908 |
Gene | MSH6 |
is a | snp |
is | mentioned by |
dbSNP | rs267608098 |
dbSNP (classic) | rs267608098 |
ClinGen | rs267608098 |
ebi | rs267608098 |
HLI | rs267608098 |
Exac | rs267608098 |
Gnomad | rs267608098 |
Varsome | rs267608098 |
LitVar | rs267608098 |
Map | rs267608098 |
PheGenI | rs267608098 |
Biobank | rs267608098 |
1000 genomes | rs267608098 |
hgdp | rs267608098 |
ensembl | rs267608098 |
geneview | rs267608098 |
scholar | rs267608098 |
rs267608098 | |
pharmgkb | rs267608098 |
gwascentral | rs267608098 |
openSNP | rs267608098 |
23andMe | rs267608098 |
SNPshot | rs267608098 |
SNPdbe | rs267608098 |
MSV3d | rs267608098 |
GWAS Ctlg | rs267608098 |
Max Magnitude | 6 |
ClinVar | |
---|---|
Risk | rs267608098(G;G) rs267608098(T;T) |
Alt | rs267608098(G;G) rs267608098(T;T) |
Reference | Rs267608098(A;A) |
Significance | Other |
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.48032047A>G; NC_000002.11:g.48032047A>T |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000074859.4, RCV000130487.4, RCV000202159.3, RCV000491972.1, |