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rs63751127

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Lynch syndrome, pathogenic mutation
Make rs63751127(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47800177
GeneMSH6
is asnp
is mentioned by
dbSNPrs63751127
dbSNP (classic)rs63751127
ClinGenrs63751127
ebirs63751127
HLIrs63751127
Exacrs63751127
Gnomadrs63751127
Varsomers63751127
LitVarrs63751127
Maprs63751127
PheGenIrs63751127
Biobankrs63751127
1000 genomesrs63751127
hgdprs63751127
ensemblrs63751127
geneviewrs63751127
scholarrs63751127
googlers63751127
pharmgkbrs63751127
gwascentralrs63751127
openSNPrs63751127
23andMers63751127
SNPshotrs63751127
SNPdbers63751127
MSV3drs63751127
GWAS Ctlgrs63751127
Max Magnitude6
ClinVar
Risk rs63751127(A;A) rs63751127(T;T)
Alt rs63751127(A;A) rs63751127(T;T)
Reference Rs63751127(C;C)
Significance Pathogenic
Disease Lynch syndrome Hereditary nonpolyposis colorectal cancer type 5 Hereditary cancer-predisposing syndrome not provided
Variation info
Gene MSH6
CLNDBN Lynch syndrome Hereditary nonpolyposis colorectal cancer type 5 Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000002.11:g.48027316C>A; NC_000002.11:g.48027316C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000197601.1, RCV000412439.1, RCV000074726.3, RCV000132226.6, RCV000212661.2,