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rs267608087

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;C) 6 Lynch syndrome, pathogenic mutation
(A;A) 0 common in clinvar
Make rs267608087(C;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position47803508
GeneMSH6
is asnp
is mentioned by
dbSNPrs267608087
dbSNP (classic)rs267608087
ClinGenrs267608087
ebirs267608087
HLIrs267608087
Exacrs267608087
Gnomadrs267608087
Varsomers267608087
LitVarrs267608087
Maprs267608087
PheGenIrs267608087
Biobankrs267608087
1000 genomesrs267608087
hgdprs267608087
ensemblrs267608087
geneviewrs267608087
scholarrs267608087
googlers267608087
pharmgkbrs267608087
gwascentralrs267608087
openSNPrs267608087
23andMers267608087
SNPshotrs267608087
SNPdbers267608087
MSV3drs267608087
GWAS Ctlgrs267608087
Merged fromRs748452299
Max Magnitude6
ClinVar
Risk rs267608087(C;C) rs267608087(CC;CC)
Alt rs267608087(C;C) rs267608087(CC;CC)
Reference Rs267608087(-;-)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Lynch syndrome not provided Hereditary nonpolyposis colorectal cancer type 5
Variation info
Gene MSH6
CLNDBN Hereditary cancer-predisposing syndrome Lynch syndrome not provided Hereditary nonpolyposis colorectal cancer type 5
Reversed 0
HGVS NC_000002.11:g.48030646_48030647dup; NC_000002.11:g.48030647dupC
CLNSRC HGMD
CLNACC RCV000491666.1, RCV000074831.3, RCV000078312.6, RCV000115412.6, RCV000410401.1,