Have questions? Visit https://www.reddit.com/r/SNPedia

rs63751207

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;G) 6 Lynch syndrome; hereditary nonpolyposis colorectal cancer (HNPCC1)
(G;G) 0 common in clinvar


Make rs63751207(C;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position47466718
GeneMSH2
is asnp
is mentioned by
dbSNPrs63751207
ebirs63751207
HLIrs63751207
Exacrs63751207
Varsomers63751207
Maprs63751207
PheGenIrs63751207
hapmaprs63751207
1000 genomesrs63751207
hgdprs63751207
ensemblrs63751207
gopubmedrs63751207
geneviewrs63751207
scholarrs63751207
googlers63751207
pharmgkbrs63751207
gwascentralrs63751207
openSNPrs63751207
23andMers63751207
23andMe allrs63751207
SNP Nexus

SNPshotrs63751207
SNPdbers63751207
MSV3drs63751207
GWAS Ctlgrs63751207
Max Magnitude6

rs63751207 is a SNP in the MSH2 gene on chromosome 2, associated with Lynch syndrome (HNPCC).[PMID 7937795OA-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 609309.0007

OMIM609309
Desc
Variant0007
Relatedalso


ClinVar
Risk rs63751207(A,C,T;A,C,T)
Alt rs63751207(A,C,T;A,C,T)
Reference rs63751207(G;G)
Significance Pathogenic
Disease not specified Tumor susceptibility linked to germline BAP1 mutations Lynch syndrome Lynch syndrome I Hereditary cancer-predisposing syndrome
Variation info
Gene MSH2
CLNDBN not specified Tumor susceptibility linked to germline BAP1 mutations Lynch syndrome Lynch syndrome I Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000002.11:g.47693857G>A; NC_000002.11:g.47693857G>C; NC_000002.11:g.47693857G>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours OMIM Allelic Variant
CLNACC RCV000160592.2, RCV000218047.1, RCV000228006.1, RCV000001829.2, RCV000076197.2, RCV000165648.1, RCV000076198.2, RCV000165745.1,