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rs267608072

From SNPedia

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


Make rs267608072(-;-)
ReferenceGRCh38 38.1/141
Chromosome2
Position47798745
GeneMSH6
is asnp
is mentioned by
dbSNPrs267608072
dbSNP (classic)rs267608072
ClinGenrs267608072
ebirs267608072
HLIrs267608072
Exacrs267608072
Gnomadrs267608072
Varsomers267608072
LitVarrs267608072
Maprs267608072
PheGenIrs267608072
Biobankrs267608072
1000 genomesrs267608072
hgdprs267608072
ensemblrs267608072
geneviewrs267608072
scholarrs267608072
googlers267608072
pharmgkbrs267608072
gwascentralrs267608072
openSNPrs267608072
23andMers267608072
SNPshotrs267608072
SNPdbers267608072
MSV3drs267608072
GWAS Ctlgrs267608072
Max Magnitude6

c.762_763delTG (p.Ser256Terfs)

23andMe name: i5037884

ClinVar
Risk rs267608072(-;-)
Alt rs267608072(-;-)
Reference Rs267608072(TG;TG)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH6
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.48025884_48025885delTG
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000075036.2,