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rs267608120

From SNPedia

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


Make rs267608120(-;-)
ReferenceGRCh38 38.1/141
Chromosome2
Position47806609
GeneFBXO11, MSH6
is asnp
is mentioned by
dbSNPrs267608120
dbSNP (classic)rs267608120
ClinGenrs267608120
ebirs267608120
HLIrs267608120
Exacrs267608120
Gnomadrs267608120
Varsomers267608120
LitVarrs267608120
Maprs267608120
PheGenIrs267608120
Biobankrs267608120
1000 genomesrs267608120
hgdprs267608120
ensemblrs267608120
geneviewrs267608120
scholarrs267608120
googlers267608120
pharmgkbrs267608120
gwascentralrs267608120
openSNPrs267608120
23andMers267608120
SNPshotrs267608120
SNPdbers267608120
MSV3drs267608120
GWAS Ctlgrs267608120
Merged fromRs267608119
Max Magnitude6
ClinVar
Risk rs267608120(-;-) Rs267608120(AAGC;AAGC) rs267608120(GCAA;GCAA)
Alt rs267608120(-;-) Rs267608120(AAGC;AAGC) rs267608120(GCAA;GCAA)
Reference Rs267608120(CAAG;CAAG)
Significance Pathogenic
Disease Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal cancer type 5 not provided
Variation info
Gene FBXO11 MSH6
CLNDBN Lynch syndrome Hereditary cancer-predisposing syndrome Hereditary nonpolyposis colorectal cancer type 5 not provided
Reversed 0
HGVS NC_000002.11:g.48033748_48033751delCAAG
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000074956.2, RCV000215904.2, RCV000411917.1, RCV000485556.1,