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rs63750469

From SNPedia

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


Make rs63750469(-;-)
ReferenceGRCh38 38.1/141
Chromosome3
Position36996692
GeneMLH1
is asnp
is mentioned by
dbSNPrs63750469
dbSNP (classic)rs63750469
ClinGenrs63750469
ebirs63750469
HLIrs63750469
Exacrs63750469
Gnomadrs63750469
Varsomers63750469
LitVarrs63750469
Maprs63750469
PheGenIrs63750469
Biobankrs63750469
1000 genomesrs63750469
hgdprs63750469
ensemblrs63750469
geneviewrs63750469
scholarrs63750469
googlers63750469
pharmgkbrs63750469
gwascentralrs63750469
openSNPrs63750469
23andMers63750469
SNPshotrs63750469
SNPdbers63750469
MSV3drs63750469
GWAS Ctlgrs63750469
Max Magnitude6
ClinVar
Risk rs63750469(-;-)
Alt rs63750469(-;-)
Reference Rs63750469(AA;AA)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MLH1
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000003.11:g.37038183_37038184delAA
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000075420.2,