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rs63750542

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 Lynch syndrome, pathogenic mutation
Make rs63750542(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position37004461
GeneMLH1
is asnp
is mentioned by
dbSNPrs63750542
dbSNP (classic)rs63750542
ClinGenrs63750542
ebirs63750542
HLIrs63750542
Exacrs63750542
Gnomadrs63750542
Varsomers63750542
LitVarrs63750542
Maprs63750542
PheGenIrs63750542
Biobankrs63750542
1000 genomesrs63750542
hgdprs63750542
ensemblrs63750542
geneviewrs63750542
scholarrs63750542
googlers63750542
pharmgkbrs63750542
gwascentralrs63750542
openSNPrs63750542
23andMers63750542
SNPshotrs63750542
SNPdbers63750542
MSV3drs63750542
GWAS Ctlgrs63750542
Max Magnitude6
ClinVar
Risk rs63750542(T;T)
Alt rs63750542(T;T)
Reference Rs63750542(A;A)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MLH1
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000003.11:g.37045952A>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000075669.2,