rs1800932
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs1800932(A;G) |
Make rs1800932(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 2 |
Position | 47790942 |
Gene | MSH6 |
is a | snp |
is | mentioned by |
dbSNP | rs1800932 |
dbSNP (classic) | rs1800932 |
ClinGen | rs1800932 |
ebi | rs1800932 |
HLI | rs1800932 |
Exac | rs1800932 |
Gnomad | rs1800932 |
Varsome | rs1800932 |
LitVar | rs1800932 |
Map | rs1800932 |
PheGenI | rs1800932 |
Biobank | rs1800932 |
1000 genomes | rs1800932 |
hgdp | rs1800932 |
ensembl | rs1800932 |
geneview | rs1800932 |
scholar | rs1800932 |
rs1800932 | |
pharmgkb | rs1800932 |
gwascentral | rs1800932 |
openSNP | rs1800932 |
23andMe | rs1800932 |
SNPshot | rs1800932 |
SNPdbe | rs1800932 |
MSV3d | rs1800932 |
GWAS Ctlg | rs1800932 |
GMAF | 0.1042 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
[PMID 20149637] Common variants in human CRC genes as low-risk alleles
ClinVar | |
---|---|
Risk | rs1800932(G;G) |
Alt | rs1800932(G;G) |
Reference | Rs1800932(A;A) |
Significance | Non-pathogenic |
Disease | Lynch syndrome not specified Hereditary cancer-predisposing syndrome |
Variation | info |
Gene | MSH6 |
CLNDBN | Lynch syndrome not specified Hereditary cancer-predisposing syndrome |
Reversed | 0 |
HGVS | NC_000002.11:g.48018081A>G |
CLNSRC | International Society for Gastrointestinal Hereditary Tumours |
CLNACC | RCV000030265.4, RCV000035321.8, RCV000162362.1, |
[PMID 20386703] Association between DNA damage response and repair genes and risk of invasive serous ovarian cancer.
[PMID 10537275] Germ-line msh6 mutations in colorectal cancer families.
[PMID 15805151] No MSH6 germline mutations in breast cancer families with colorectal and/or endometrial cancer.
[PMID 24357391] DNA mismatch repair gene MSH6 implicated in determining age at natural menopause