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rs63750061

From SNPedia

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


Make rs63750061(-;-)
ReferenceGRCh38 38.1/141
Chromosome3
Position37048920
GeneMLH1
is asnp
is mentioned by
dbSNPrs63750061
dbSNP (classic)rs63750061
ClinGenrs63750061
ebirs63750061
HLIrs63750061
Exacrs63750061
Gnomadrs63750061
Varsomers63750061
LitVarrs63750061
Maprs63750061
PheGenIrs63750061
Biobankrs63750061
1000 genomesrs63750061
hgdprs63750061
ensemblrs63750061
geneviewrs63750061
scholarrs63750061
googlers63750061
pharmgkbrs63750061
gwascentralrs63750061
openSNPrs63750061
23andMers63750061
SNPshotrs63750061
SNPdbers63750061
MSV3drs63750061
GWAS Ctlgrs63750061
Max Magnitude6
ClinVar
Risk rs63750061(-;-)
Alt rs63750061(-;-)
Reference Rs63750061(AAGAA;AAGAA)
Significance Pathogenic
Disease Lynch syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene MLH1
CLNDBN Lynch syndrome Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000003.11:g.37090411_37090415delAAAAG
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000075480.2, RCV000214195.1,