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rs63751017

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Lynch syndrome, pathogenic mutation
Make rs63751017(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47800714
GeneMSH6
is asnp
is mentioned by
dbSNPrs63751017
dbSNP (classic)rs63751017
ClinGenrs63751017
ebirs63751017
HLIrs63751017
Exacrs63751017
Gnomadrs63751017
Varsomers63751017
LitVarrs63751017
Maprs63751017
PheGenIrs63751017
Biobankrs63751017
1000 genomesrs63751017
hgdprs63751017
ensemblrs63751017
geneviewrs63751017
scholarrs63751017
googlers63751017
pharmgkbrs63751017
gwascentralrs63751017
openSNPrs63751017
23andMers63751017
SNPshotrs63751017
SNPdbers63751017
MSV3drs63751017
GWAS Ctlgrs63751017
Max Magnitude6
ClinVar
Risk rs63751017(T;T)
Alt rs63751017(T;T)
Reference Rs63751017(C;C)
Significance Pathogenic
Disease Lynch syndrome Hereditary cancer-predisposing syndrome Endometrial carcinoma not provided Hereditary nonpolyposis colorectal cancer type 5
Variation info
Gene MSH6
CLNDBN Lynch syndrome Hereditary cancer-predisposing syndrome Endometrial carcinoma not provided Hereditary nonpolyposis colorectal cancer type 5
Reversed 0
HGVS NC_000002.11:g.48027853C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000074777.2, RCV000129807.6, RCV000148645.1, RCV000202017.2, RCV000411710.1,