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rs63750356

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Lynch syndrome, pathogenic mutation
Make rs63750356(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47803683
GeneMSH6
is asnp
is mentioned by
dbSNPrs63750356
dbSNP (classic)rs63750356
ClinGenrs63750356
ebirs63750356
HLIrs63750356
Exacrs63750356
Gnomadrs63750356
Varsomers63750356
LitVarrs63750356
Maprs63750356
PheGenIrs63750356
Biobankrs63750356
1000 genomesrs63750356
hgdprs63750356
ensemblrs63750356
geneviewrs63750356
scholarrs63750356
googlers63750356
pharmgkbrs63750356
gwascentralrs63750356
openSNPrs63750356
23andMers63750356
SNPshotrs63750356
SNPdbers63750356
MSV3drs63750356
GWAS Ctlgrs63750356
Max Magnitude6

c.3436C>T (p.Gln1146Ter)

23andMe name: i5900962


ClinVar
Risk rs63750356(T;T)
Alt rs63750356(T;T)
Reference Rs63750356(C;C)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH6
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.48030822C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000074849.2,