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rs876658211

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6 Possible miscall by 23andMe; otherwise: Lynch syndrome, pathogenic mutation
Make rs876658211(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position47482824
GeneMSH2
is asnp
is mentioned by
dbSNPrs876658211
dbSNP (old)rs876658211
ClinGenrs876658211
ebirs876658211
HLIrs876658211
Exacrs876658211
Gnomadrs876658211
Varsomers876658211
Maprs876658211
PheGenIrs876658211
Biobankrs876658211
1000 genomesrs876658211
hgdprs876658211
ensemblrs876658211
gopubmedrs876658211
geneviewrs876658211
scholarrs876658211
googlers876658211
pharmgkbrs876658211
gwascentralrs876658211
openSNPrs876658211
23andMers876658211
23andMe allrs876658211
SNPshotrs876658211
SNPdbers876658211
MSV3drs876658211
GWAS Ctlgrs876658211
Max Magnitude6

aka c.2680dupA

considered pathogenic for hereditary cancer-predisposing syndrome (presumably equivalent to Lynch syndrome) in ClinVar; one of the most frequent MSH2 gene mutations noted in gnomAD


23andMe name: i5037796

ClinVar
Risk rs876658211(A;A)
Alt rs876658211(A;A)
Reference Rs876658211(-;-)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome
Variation info
Gene MSH2
CLNDBN Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000002.11:g.47709963dupA
CLNSRC
CLNACC RCV000214664.1,