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rs587779245

From SNPedia

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


Make rs587779245(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position47800697
GeneMSH6
is asnp
is mentioned by
dbSNPrs587779245
dbSNP (classic)rs587779245
ClinGenrs587779245
ebirs587779245
HLIrs587779245
Exacrs587779245
Gnomadrs587779245
Varsomers587779245
LitVarrs587779245
Maprs587779245
PheGenIrs587779245
Biobankrs587779245
1000 genomesrs587779245
hgdprs587779245
ensemblrs587779245
geneviewrs587779245
scholarrs587779245
googlers587779245
pharmgkbrs587779245
gwascentralrs587779245
openSNPrs587779245
23andMers587779245
SNPshotrs587779245
SNPdbers587779245
MSV3drs587779245
GWAS Ctlgrs587779245
Max Magnitude6

c.2714T>A (p.Leu905Ter)

23andMe name: i5046132


ClinVar
Risk rs587779245(A;A)
Alt rs587779245(A;A)
Reference Rs587779245(T;T)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH6
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.48027836T>A
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000074775.2,