rs267607911
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs267607911(A;T) |
Make rs267607911(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 2 |
Position | 47403192 |
Gene | MSH2 |
is a | snp |
is | mentioned by |
dbSNP | rs267607911 |
dbSNP (classic) | rs267607911 |
ClinGen | rs267607911 |
ebi | rs267607911 |
HLI | rs267607911 |
Exac | rs267607911 |
Gnomad | rs267607911 |
Varsome | rs267607911 |
LitVar | rs267607911 |
Map | rs267607911 |
PheGenI | rs267607911 |
Biobank | rs267607911 |
1000 genomes | rs267607911 |
hgdp | rs267607911 |
ensembl | rs267607911 |
geneview | rs267607911 |
scholar | rs267607911 |
rs267607911 | |
pharmgkb | rs267607911 |
gwascentral | rs267607911 |
openSNP | rs267607911 |
23andMe | rs267607911 |
SNPshot | rs267607911 |
SNPdbe | rs267607911 |
MSV3d | rs267607911 |
GWAS Ctlg | rs267607911 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267607911(C;C) rs267607911(G;G) rs267607911(T;T) |
Alt | rs267607911(C;C) rs267607911(G;G) rs267607911(T;T) |
Reference | Rs267607911(A;A) |
Significance | Probable-Pathogenic |
Disease | Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome I not specified |
Variation | info |
Gene | MSH2 |
CLNDBN | Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome I not specified |
Reversed | 0 |
HGVS | NC_000002.11:g.47630331A>C; NC_000002.11:g.47630331A>G; NC_000002.11:g.47630331A>T |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000076334.4, RCV000160588.6, RCV000409939.1, RCV000076335.2, RCV000165763.1, RCV000172811.1, RCV000235433.1, RCV000076336.3, |