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rs267608057

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;CT) 6 Lynch syndrome, pathogenic mutation
(CT;CT) 0 common in clinvar


Make rs267608057(-;-)
ReferenceGRCh38 38.1/141
Chromosome2
Position47800028
GeneMSH6
is asnp
is mentioned by
dbSNPrs267608057
dbSNP (classic)rs267608057
ClinGenrs267608057
ebirs267608057
HLIrs267608057
Exacrs267608057
Gnomadrs267608057
Varsomers267608057
LitVarrs267608057
Maprs267608057
PheGenIrs267608057
Biobankrs267608057
1000 genomesrs267608057
hgdprs267608057
ensemblrs267608057
geneviewrs267608057
scholarrs267608057
googlers267608057
pharmgkbrs267608057
gwascentralrs267608057
openSNPrs267608057
23andMers267608057
SNPshotrs267608057
SNPdbers267608057
MSV3drs267608057
GWAS Ctlgrs267608057
Max Magnitude6

c.2045_2046delCT (p.Ser682Cysfs)

23andMe name: i5037854

ClinVar
Risk rs267608057(-;-)
Alt rs267608057(-;-)
Reference Rs267608057(CT;CT)
Significance Pathogenic
Disease Lynch syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene MSH6
CLNDBN Lynch syndrome Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000002.11:g.48027167_48027168delCT
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000074706.2, RCV000491528.1,