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rs63751108

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs63751108(C;T)
Make rs63751108(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47429881
GeneMSH2
is asnp
is mentioned by
dbSNPrs63751108
ebirs63751108
HLIrs63751108
Exacrs63751108
Varsomers63751108
Maprs63751108
PheGenIrs63751108
hapmaprs63751108
1000 genomesrs63751108
hgdprs63751108
ensemblrs63751108
gopubmedrs63751108
geneviewrs63751108
scholarrs63751108
googlers63751108
pharmgkbrs63751108
gwascentralrs63751108
openSNPrs63751108
23andMers63751108
23andMe allrs63751108
SNP Nexus

SNPshotrs63751108
SNPdbers63751108
MSV3drs63751108
GWAS Ctlgrs63751108
Max Magnitude0
OMIM609309
Desc
Variant0003
Relatedalso
ClinVar
Risk rs63751108(T;T)
Alt rs63751108(T;T)
Reference rs63751108(C;C)
Significance Pathogenic
Disease Lynch syndrome I Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Variation info
Gene MSH2
CLNDBN Lynch syndrome I Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000002.11:g.47657020C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours OMIM Allelic Variant
CLNACC RCV000001825.2, RCV000030238.3, RCV000162489.1, RCV000202291.2,


[PMID 1573177] Long-term follow-up of Morton's neuroma.


[PMID 8062247] hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds.


[PMID 9288790] Genomic DNA-based hMSH2 and hMLH1 mutation screening in 32 Eastern United States hereditary nonpolyposis colorectal cancer pedigrees.


[PMID 12362047OA-icon.png] Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States.


[PMID 17414604OA-icon.png] Single-amplicon MSH2 A636P mutation testing in Ashkenazi Jewish patients with colorectal cancer: role in presurgical management.


[PMID 19459153] High frequency of exon deletions and putative founder effects in French Canadian Lynch syndrome families.