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rs63751419

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 6 Lynch syndrome, pathogenic mutation
Make rs63751419(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position47800088
GeneMSH6
is asnp
is mentioned by
dbSNPrs63751419
dbSNP (classic)rs63751419
ClinGenrs63751419
ebirs63751419
HLIrs63751419
Exacrs63751419
Gnomadrs63751419
Varsomers63751419
LitVarrs63751419
Maprs63751419
PheGenIrs63751419
Biobankrs63751419
1000 genomesrs63751419
hgdprs63751419
ensemblrs63751419
geneviewrs63751419
scholarrs63751419
googlers63751419
pharmgkbrs63751419
gwascentralrs63751419
openSNPrs63751419
23andMers63751419
SNPshotrs63751419
SNPdbers63751419
MSV3drs63751419
GWAS Ctlgrs63751419
Max Magnitude6
ClinVar
Risk rs63751419(G;G) rs63751419(T;T)
Alt rs63751419(G;G) rs63751419(T;T)
Reference Rs63751419(C;C)
Significance Pathogenic
Disease Lynch syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene MSH6
CLNDBN Lynch syndrome Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000002.11:g.48027227C>G; NC_000002.11:g.48027227C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000074717.2, RCV000129429.2,