rs1042821
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs1042821(C;T) |
Make rs1042821(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 2 |
Position | 47783349 |
Gene | MSH6 |
is a | snp |
is | mentioned by |
dbSNP | rs1042821 |
dbSNP (classic) | rs1042821 |
ClinGen | rs1042821 |
ebi | rs1042821 |
HLI | rs1042821 |
Exac | rs1042821 |
Gnomad | rs1042821 |
Varsome | rs1042821 |
LitVar | rs1042821 |
Map | rs1042821 |
PheGenI | rs1042821 |
Biobank | rs1042821 |
1000 genomes | rs1042821 |
hgdp | rs1042821 |
ensembl | rs1042821 |
geneview | rs1042821 |
scholar | rs1042821 |
rs1042821 | |
pharmgkb | rs1042821 |
gwascentral | rs1042821 |
openSNP | rs1042821 |
23andMe | rs1042821 |
SNPshot | rs1042821 |
SNPdbe | rs1042821 |
MSV3d | rs1042821 |
GWAS Ctlg | rs1042821 |
Max Magnitude | 0 |
[PMID 26027715] Correlation between polymorphisms in DNA mismatch repair genes and the risk of primary hepatocellular carcinoma for the Han population in northern China
ClinVar | |
---|---|
Risk | rs1042821(G;G) rs1042821(T;T) |
Alt | rs1042821(G;G) rs1042821(T;T) |
Reference | Rs1042821(C;C) |
Significance | Non-pathogenic |
Disease | Lynch syndrome not provided not specified Hereditary cancer-predisposing syndrome Lynch syndrome I |
Variation | info |
Gene | MSH6 |
CLNDBN | Lynch syndrome not provided not specified Hereditary cancer-predisposing syndrome Lynch syndrome I |
Reversed | 1 |
HGVS | NC_000002.11:g.48010488G>A; NC_000002.11:g.48010488G>C |
CLNSRC | HGMD UniProtKB (protein) |
CLNACC | RCV000030258.4, RCV000034489.1, RCV000035318.9, RCV000132091.3, RCV000144626.1, RCV000480607.1, |
[PMID 29616133] Mismatch repair single nucleotide polymorphisms and thyroid cancer susceptibility.
[PMID 31374908] Thyroid Cancer: The Quest for Genetic Susceptibility Involving DNA Repair Genes.