rs3732183
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs3732183(A;A) |
Make rs3732183(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47466820 |
Gene | MSH2 |
is a | snp |
is | mentioned by |
dbSNP | rs3732183 |
dbSNP (classic) | rs3732183 |
ClinGen | rs3732183 |
ebi | rs3732183 |
HLI | rs3732183 |
Exac | rs3732183 |
Gnomad | rs3732183 |
Varsome | rs3732183 |
LitVar | rs3732183 |
Map | rs3732183 |
PheGenI | rs3732183 |
Biobank | rs3732183 |
1000 genomes | rs3732183 |
hgdp | rs3732183 |
ensembl | rs3732183 |
geneview | rs3732183 |
scholar | rs3732183 |
rs3732183 | |
pharmgkb | rs3732183 |
gwascentral | rs3732183 |
openSNP | rs3732183 |
23andMe | rs3732183 |
SNPshot | rs3732183 |
SNPdbe | rs3732183 |
MSV3d | rs3732183 |
GWAS Ctlg | rs3732183 |
GMAF | 0.4669 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
[PMID 20091185] MGMT -535G>T polymorphism is associated with prognosis for patients with metastatic colorectal cancer treated with oxaliplatin-based chemotherapy
ClinVar | |
---|---|
Risk | rs3732183(A;A) |
Alt | rs3732183(A;A) |
Reference | Rs3732183(G;G) |
Significance | Non-pathogenic |
Disease | Lynch syndrome not specified Hereditary cancer-predisposing syndrome Lynch syndrome I |
Variation | info |
Gene | MSH2 |
CLNDBN | Lynch syndrome not specified Hereditary cancer-predisposing syndrome Lynch syndrome I |
Reversed | 0 |
HGVS | NC_000002.11:g.47693959G>A |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000030241.4, RCV000035358.9, RCV000132147.1, RCV000144614.1, |
[PMID 19930554] Partial loss of heterozygosity events at the mutated gene in tumors from MLH1/MSH2 large genomic rearrangement carriers.
[PMID 31035658] Polymorphisms of Mismatch Repair Pathway Genes Predict Clinical Outcomes in Oral Squamous Cell Carcinoma Patients Receiving Adjuvant Concurrent Chemoradiotherapy.