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rs63751077

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 6 Lynch syndrome, pathogenic mutation
(C;C) 0 common in clinvar
(C;G) 6 Lynch syndrome


Make rs63751077(A;A)
ReferenceGRCh38 38.1/141
Chromosome2
Position47796035
GeneMSH6
is asnp
is mentioned by
dbSNPrs63751077
dbSNP (classic)rs63751077
ClinGenrs63751077
ebirs63751077
HLIrs63751077
Exacrs63751077
Gnomadrs63751077
Varsomers63751077
LitVarrs63751077
Maprs63751077
PheGenIrs63751077
Biobankrs63751077
1000 genomesrs63751077
hgdprs63751077
ensemblrs63751077
geneviewrs63751077
scholarrs63751077
googlers63751077
pharmgkbrs63751077
gwascentralrs63751077
openSNPrs63751077
23andMers63751077
SNPshotrs63751077
SNPdbers63751077
MSV3drs63751077
GWAS Ctlgrs63751077
Max Magnitude6

c.599C>A (p.Ser200Ter)

23andMe name: i5901102


ClinVar
Risk rs63751077(A;A) rs63751077(G;G)
Alt rs63751077(A;A) rs63751077(G;G)
Reference Rs63751077(C;C)
Significance Pathogenic
Disease Lynch syndrome not provided Hereditary cancer-predisposing syndrome
Variation info
Gene MSH6
CLNDBN Lynch syndrome not provided Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000002.11:g.48023174C>A; NC_000002.11:g.48023174C>G
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000075008.2, RCV000217643.1, RCV000491993.1,