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rs63750993

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 Lynch syndrome, pathogenic mutation
Make rs63750993(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position37020336
GeneMLH1
is asnp
is mentioned by
dbSNPrs63750993
dbSNP (classic)rs63750993
ClinGenrs63750993
ebirs63750993
HLIrs63750993
Exacrs63750993
Gnomadrs63750993
Varsomers63750993
LitVarrs63750993
Maprs63750993
PheGenIrs63750993
Biobankrs63750993
1000 genomesrs63750993
hgdprs63750993
ensemblrs63750993
geneviewrs63750993
scholarrs63750993
googlers63750993
pharmgkbrs63750993
gwascentralrs63750993
openSNPrs63750993
23andMers63750993
SNPshotrs63750993
SNPdbers63750993
MSV3drs63750993
GWAS Ctlgrs63750993
Max Magnitude6
ClinVar
Risk rs63750993(G;G) rs63750993(T;T)
Alt rs63750993(G;G) rs63750993(T;T)
Reference Rs63750993(A;A)
Significance Probable-Pathogenic
Disease Lynch syndrome not specified
Variation info
Gene MLH1
CLNDBN Lynch syndrome not specified
Reversed 0
HGVS NC_000003.11:g.37061827A>G; NC_000003.11:g.37061827A>T
CLNSRC UniProtKB (protein)
CLNACC RCV000075931.2, RCV000482267.1, RCV000075932.2,