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rs63750342

From SNPedia

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


Make rs63750342(A;A)
ReferenceGRCh38 38.1/141
Chromosome2
Position47791092
GeneMSH6
is asnp
is mentioned by
dbSNPrs63750342
dbSNP (classic)rs63750342
ClinGenrs63750342
ebirs63750342
HLIrs63750342
Exacrs63750342
Gnomadrs63750342
Varsomers63750342
LitVarrs63750342
Maprs63750342
PheGenIrs63750342
Biobankrs63750342
1000 genomesrs63750342
hgdprs63750342
ensemblrs63750342
geneviewrs63750342
scholarrs63750342
googlers63750342
pharmgkbrs63750342
gwascentralrs63750342
openSNPrs63750342
23andMers63750342
SNPshotrs63750342
SNPdbers63750342
MSV3drs63750342
GWAS Ctlgrs63750342
Max Magnitude6

c.426G>A (p.Trp142Ter)

23andMe name: i5046129


ClinVar
Risk rs63750342(A;A)
Alt rs63750342(A;A)
Reference Rs63750342(G;G)
Significance Pathogenic
Disease Lynch syndrome Lynch syndrome I
Variation info
Gene MSH6
CLNDBN Lynch syndrome Lynch syndrome I
Reversed 0
HGVS NC_000002.11:g.48018231G>A
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000074987.2, RCV000144625.1,