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rs63750663

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 Lynch syndrome, pathogenic mutation
Make rs63750663(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position37048925
GeneMLH1
is asnp
is mentioned by
dbSNPrs63750663
dbSNP (classic)rs63750663
ClinGenrs63750663
ebirs63750663
HLIrs63750663
Exacrs63750663
Gnomadrs63750663
Varsomers63750663
LitVarrs63750663
Maprs63750663
PheGenIrs63750663
Biobankrs63750663
1000 genomesrs63750663
hgdprs63750663
ensemblrs63750663
geneviewrs63750663
scholarrs63750663
googlers63750663
pharmgkbrs63750663
gwascentralrs63750663
openSNPrs63750663
23andMers63750663
SNPshotrs63750663
SNPdbers63750663
MSV3drs63750663
GWAS Ctlgrs63750663
Max Magnitude6

aka c.2011G>T (p.Glu671Ter)

ClinVar
Risk rs63750663(T;T)
Alt rs63750663(T;T)
Reference Rs63750663(G;G)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MLH1
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000003.11:g.37090416G>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000075483.2,