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rs267608099

From SNPedia

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


Make rs267608099(-;-)
ReferenceGRCh38 38.1/141
Chromosome2
Position47804987
GeneMSH6
is asnp
is mentioned by
dbSNPrs267608099
dbSNP (classic)rs267608099
ClinGenrs267608099
ebirs267608099
HLIrs267608099
Exacrs267608099
Gnomadrs267608099
Varsomers267608099
LitVarrs267608099
Maprs267608099
PheGenIrs267608099
Biobankrs267608099
1000 genomesrs267608099
hgdprs267608099
ensemblrs267608099
geneviewrs267608099
scholarrs267608099
googlers267608099
pharmgkbrs267608099
gwascentralrs267608099
openSNPrs267608099
23andMers267608099
SNPshotrs267608099
SNPdbers267608099
MSV3drs267608099
GWAS Ctlgrs267608099
Max Magnitude6

c.3516_3519delAGTG (p.Arg1172Serfs)

23andMe name: i5037859

ClinVar
Risk rs267608099(-;-)
Alt rs267608099(-;-)
Reference Rs267608099(GAGT;GAGT)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH6
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.48032126_48032129delAGTG
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000074873.2,