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rs63751321

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Lynch syndrome, pathogenic mutation
Make rs63751321(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47800486
GeneMSH6
is asnp
is mentioned by
dbSNPrs63751321
dbSNP (classic)rs63751321
ClinGenrs63751321
ebirs63751321
HLIrs63751321
Exacrs63751321
Gnomadrs63751321
Varsomers63751321
LitVarrs63751321
Maprs63751321
PheGenIrs63751321
Biobankrs63751321
1000 genomesrs63751321
hgdprs63751321
ensemblrs63751321
geneviewrs63751321
scholarrs63751321
googlers63751321
pharmgkbrs63751321
gwascentralrs63751321
openSNPrs63751321
23andMers63751321
SNPshotrs63751321
SNPdbers63751321
MSV3drs63751321
GWAS Ctlgrs63751321
Max Magnitude6
ClinVar
Risk rs63751321(G;G) rs63751321(T;T)
Alt rs63751321(G;G) rs63751321(T;T)
Reference Rs63751321(C;C)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Lynch syndrome
Variation info
Gene MSH6
CLNDBN Hereditary cancer-predisposing syndrome Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.48027625C>G; NC_000002.11:g.48027625C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000217507.1, RCV000074750.2, RCV000218020.1,