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rs63749873

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 6 Lynch syndrome, pathogenic mutation
Make rs63749873(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position47795903
GeneMSH6
is asnp
is mentioned by
dbSNPrs63749873
ebirs63749873
HLIrs63749873
Exacrs63749873
Varsomers63749873
Maprs63749873
PheGenIrs63749873
hapmaprs63749873
1000 genomesrs63749873
hgdprs63749873
ensemblrs63749873
gopubmedrs63749873
geneviewrs63749873
scholarrs63749873
googlers63749873
pharmgkbrs63749873
gwascentralrs63749873
openSNPrs63749873
23andMers63749873
23andMe allrs63749873
SNP Nexus

SNPshotrs63749873
SNPdbers63749873
MSV3drs63749873
GWAS Ctlgrs63749873
Max Magnitude6

rs63749873, also known as c.467C>G, p.Ser156Ter and S156*, represents a very rare variant in the MSH6 gene on chromosome 2.

Several sources, including ClinVar and Insight, all classify the rs63749873(G) allele as a pathogenic mutation associated with Lynch syndrome.


ClinVar
Risk rs63749873(G;G)
Alt rs63749873(G;G)
Reference rs63749873(C;C)
Significance Pathogenic
Disease Lynch syndrome Lynch syndrome I not provided
Variation info
Gene MSH6
CLNDBN Lynch syndrome Lynch syndrome I not provided
Reversed 0
HGVS NC_000002.11:g.48023042C>G
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000075003.2, RCV000172813.1, RCV000201956.2,