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rs63750357

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;ATTA) 6 Lynch syndrome, pathogenic mutation
(I;I) 0
Make rs63750357(ATTA;ATTA)
ReferenceGRCh38 38.1/141
Chromosome2
Position47800597
GeneMSH6
is asnp
is mentioned by
dbSNPrs63750357
dbSNP (classic)rs63750357
ClinGenrs63750357
ebirs63750357
HLIrs63750357
Exacrs63750357
Gnomadrs63750357
Varsomers63750357
LitVarrs63750357
Maprs63750357
PheGenIrs63750357
Biobankrs63750357
1000 genomesrs63750357
hgdprs63750357
ensemblrs63750357
geneviewrs63750357
scholarrs63750357
googlers63750357
pharmgkbrs63750357
gwascentralrs63750357
openSNPrs63750357
23andMers63750357
SNPshotrs63750357
SNPdbers63750357
MSV3drs63750357
GWAS Ctlgrs63750357
Max Magnitude6
ClinVar
Risk rs63750357(AATT;AATT)
Alt rs63750357(AATT;AATT)
Reference Rs63750357(-;-)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH6
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.48027733_48027736dupATTA
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000074768.2,