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rs63750059

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 6 Lynch syndrome, pathogenic mutation
(G;T) 6 Lynch syndrome, pathogenic mutation
(T;T) 0 common in clinvar


Make rs63750059(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position37042276
GeneMLH1
is asnp
is mentioned by
dbSNPrs63750059
dbSNP (classic)rs63750059
ClinGenrs63750059
ebirs63750059
HLIrs63750059
Exacrs63750059
Gnomadrs63750059
Varsomers63750059
LitVarrs63750059
Maprs63750059
PheGenIrs63750059
Biobankrs63750059
1000 genomesrs63750059
hgdprs63750059
ensemblrs63750059
geneviewrs63750059
scholarrs63750059
googlers63750059
pharmgkbrs63750059
gwascentralrs63750059
openSNPrs63750059
23andMers63750059
SNPshotrs63750059
SNPdbers63750059
MSV3drs63750059
GWAS Ctlgrs63750059
Max Magnitude6
ClinVar
Risk rs63750059(C;C) rs63750059(G;G)
Alt rs63750059(C;C) rs63750059(G;G)
Reference Rs63750059(T;T)
Significance Probable-Pathogenic
Disease Lynch syndrome I Lynch syndrome
Variation info
Gene MLH1
CLNDBN Lynch syndrome I Lynch syndrome
Reversed 0
HGVS NC_000003.11:g.37083767T>C; NC_000003.11:g.37083767T>G
CLNSRC UniProtKB (protein)
CLNACC RCV000204126.1, RCV000075310.2,