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rs267608078

From SNPedia

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


Make rs267608078(-;-)
ReferenceGRCh38 38.1/141
Chromosome2
Position47803508
GeneMSH6
is asnp
is mentioned by
dbSNPrs267608078
dbSNP (classic)rs267608078
ClinGenrs267608078
ebirs267608078
HLIrs267608078
Exacrs267608078
Gnomadrs267608078
Varsomers267608078
LitVarrs267608078
Maprs267608078
PheGenIrs267608078
Biobankrs267608078
1000 genomesrs267608078
hgdprs267608078
ensemblrs267608078
geneviewrs267608078
scholarrs267608078
googlers267608078
pharmgkbrs267608078
gwascentralrs267608078
openSNPrs267608078
23andMers267608078
SNPshotrs267608078
SNPdbers267608078
MSV3drs267608078
GWAS Ctlgrs267608078
Max Magnitude6

c.3261delC (p.Phe1088Serfs)

23andMe name: i5037852

ClinVar
Risk rs267608078(-;-)
Alt rs267608078(-;-)
Reference Rs267608078(C;C)
Significance Pathogenic
Disease Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Variation info
Gene MSH6
CLNDBN Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000002.11:g.48030647delC
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000074830.3, RCV000115411.7, RCV000202045.3,