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rs63750833

From SNPedia

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


Make rs63750833(-;-)
ReferenceGRCh38 38.1/141
Chromosome2
Position47801138
GeneMSH6
is asnp
is mentioned by
dbSNPrs63750833
dbSNP (classic)rs63750833
ClinGenrs63750833
ebirs63750833
HLIrs63750833
Exacrs63750833
Gnomadrs63750833
Varsomers63750833
LitVarrs63750833
Maprs63750833
PheGenIrs63750833
Biobankrs63750833
1000 genomesrs63750833
hgdprs63750833
ensemblrs63750833
geneviewrs63750833
scholarrs63750833
googlers63750833
pharmgkbrs63750833
gwascentralrs63750833
openSNPrs63750833
23andMers63750833
SNPshotrs63750833
SNPdbers63750833
MSV3drs63750833
GWAS Ctlgrs63750833
Max Magnitude6

c.3155_3156delAG (p.Glu1052Valfs)

23andMe name: i5037890

ClinVar
Risk rs63750833(-;-)
Alt rs63750833(-;-)
Reference Rs63750833(AG;AG)
Significance Pathogenic
Disease Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Variation info
Gene MSH6
CLNDBN Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000002.11:g.48028277_48028278delAG
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000074805.2, RCV000115402.6, RCV000202199.2,