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rs63751449

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 7 Lynch syndrome; hereditary nonpolyposis colorectal cancer-1
(-;A) 3.5 carrier of a Lynch syndrome allele
(A;A) 0 common in clinvar
(I;I) 0
ReferenceGRCh38 38.1/141
Chromosome2
Position47410181
GeneMSH2
is asnp
is mentioned by
dbSNPrs63751449
ebirs63751449
HLIrs63751449
Exacrs63751449
Varsomers63751449
Maprs63751449
PheGenIrs63751449
hapmaprs63751449
1000 genomesrs63751449
hgdprs63751449
ensemblrs63751449
gopubmedrs63751449
geneviewrs63751449
scholarrs63751449
googlers63751449
pharmgkbrs63751449
gwascentralrs63751449
openSNPrs63751449
23andMers63751449
23andMe allrs63751449
SNP Nexus

SNPshotrs63751449
SNPdbers63751449
MSV3drs63751449
GWAS Ctlgrs63751449
Max Magnitude7

rs63751449 is a SNP in the MSH2 gene on chromosome 2, associated with Lynch syndrome (HNPCC).[PMID 12549480OA-icon.png]

This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.[PMID 23788249OA-icon.png]

See also OMIM 609309.0016


ClinVar
Risk rs63751449(;)
Alt rs63751449(;)
Reference rs63751449(A;A)
Significance Pathogenic
Disease Turcot syndrome Lynch syndrome
Variation info
Gene MSH2
CLNDBN Turcot syndrome Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47637320delA
CLNSRC International Society for Gastrointestinal Hereditary Tumours OMIM Allelic Variant
CLNACC RCV000001839.2, RCV000076602.2,