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rs2020908

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs2020908(C;G)
Make rs2020908(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position47799169
GeneMSH6
is asnp
is mentioned by
dbSNPrs2020908
ebirs2020908
HLIrs2020908
Exacrs2020908
Varsomers2020908
Maprs2020908
PheGenIrs2020908
hapmaprs2020908
1000 genomesrs2020908
hgdprs2020908
ensemblrs2020908
gopubmedrs2020908
geneviewrs2020908
scholarrs2020908
googlers2020908
pharmgkbrs2020908
gwascentralrs2020908
openSNPrs2020908
23andMers2020908
23andMe allrs2020908
SNP Nexus

SNPshotrs2020908
SNPdbers2020908
MSV3drs2020908
GWAS Ctlgrs2020908
GMAF0.004132
Max Magnitude0
? (C;C) (C;G) (G;G) 28
Venter snp
Source plos
Gene MSH6
allele G
frequency 0.008
sift AFFECT FUNCTION
HuRef 1103658091309
Disease Association Defects in MSH6 are a cause of susceptibility to endometrial cancer (MIM:608089).



ClinVar
Risk rs2020908(G;G)
Alt rs2020908(G;G)
Reference rs2020908(C;C)
Significance Non-pathogenic
Disease Lynch syndrome not provided not specified Lynch syndrome I Hereditary cancer-predisposing syndrome
Variation info
Gene MSH6
CLNDBN Lynch syndrome not provided not specified Lynch syndrome I Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000002.11:g.48026308C>G
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000030259.3, RCV000034490.3, RCV000121576.2, RCV000144628.1, RCV000157762.4,



[PMID 19389263OA-icon.png] Investigation on the role of nsSNPs in HNPCC genes--a bioinformatics approach.


[PMID 20805886OA-icon.png] Unique DNA repair gene variations and potential associations with the primary antibody deficiency syndromes IgAD and CVID.


[PMID 10508] A new form of antihistamine--the H2-receptor antagonist.


[PMID 10537275] Germ-line msh6 mutations in colorectal cancer families.


[PMID 15340264] Genotyping possible polymorphic variants of human mismatch repair genes in healthy Korean individuals and sporadic colorectal cancer patients.


[PMID 17417778] Genetic investigation of DNA-repair pathway genes PMS2, MLH1, MSH2, MSH6, MUTYH, OGG1 and MTH1 in sporadic colon cancer.


[PMID 18566915] Major contribution from recurrent alterations and MSH6 mutations in the Danish Lynch syndrome population.


[PMID 19250818] A new strategy to screen MMR genes in Lynch Syndrome: HA-CAE, MLPA and RT-PCR.