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rs63749942

From SNPedia

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


Make rs63749942(-;-)
ReferenceGRCh38 38.1/141
Chromosome2
Position47806281
GeneMSH6
is asnp
is mentioned by
dbSNPrs63749942
dbSNP (classic)rs63749942
ClinGenrs63749942
ebirs63749942
HLIrs63749942
Exacrs63749942
Gnomadrs63749942
Varsomers63749942
LitVarrs63749942
Maprs63749942
PheGenIrs63749942
Biobankrs63749942
1000 genomesrs63749942
hgdprs63749942
ensemblrs63749942
geneviewrs63749942
scholarrs63749942
googlers63749942
pharmgkbrs63749942
gwascentralrs63749942
openSNPrs63749942
23andMers63749942
SNPshotrs63749942
SNPdbers63749942
MSV3drs63749942
GWAS Ctlgrs63749942
Merged fromRs587781362
Max Magnitude6
ClinVar
Risk rs63749942(-;-) Rs63749942(GTC;GTC)
Alt rs63749942(-;-) Rs63749942(GTC;GTC)
Reference Rs63749942(CGT;CGT)
Significance Probable-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.48033420_48033422delCGT
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000074918.2, RCV000129144.4, RCV000255857.1,