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rs63750539

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Lynch syndrome, pathogenic mutation
Make rs63750539(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position37004426
GeneMLH1
is asnp
is mentioned by
dbSNPrs63750539
dbSNP (classic)rs63750539
ClinGenrs63750539
ebirs63750539
HLIrs63750539
Exacrs63750539
Gnomadrs63750539
Varsomers63750539
LitVarrs63750539
Maprs63750539
PheGenIrs63750539
Biobankrs63750539
1000 genomesrs63750539
hgdprs63750539
ensemblrs63750539
geneviewrs63750539
scholarrs63750539
googlers63750539
pharmgkbrs63750539
gwascentralrs63750539
openSNPrs63750539
23andMers63750539
SNPshotrs63750539
SNPdbers63750539
MSV3drs63750539
GWAS Ctlgrs63750539
Max Magnitude6
ClinVar
Risk rs63750539(T;T)
Alt rs63750539(T;T)
Reference Rs63750539(C;C)
Significance Probable-Pathogenic
Disease Lynch syndrome
Variation info
Gene MLH1
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000003.11:g.37045917C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000075658.2,