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rs63750796

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 Lynch syndrome, pathogenic mutation
Make rs63750796(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position37020380
GeneMLH1
is asnp
is mentioned by
dbSNPrs63750796
dbSNP (classic)rs63750796
ClinGenrs63750796
ebirs63750796
HLIrs63750796
Exacrs63750796
Gnomadrs63750796
Varsomers63750796
LitVarrs63750796
Maprs63750796
PheGenIrs63750796
Biobankrs63750796
1000 genomesrs63750796
hgdprs63750796
ensemblrs63750796
geneviewrs63750796
scholarrs63750796
googlers63750796
pharmgkbrs63750796
gwascentralrs63750796
openSNPrs63750796
23andMers63750796
SNPshotrs63750796
SNPdbers63750796
MSV3drs63750796
GWAS Ctlgrs63750796
Max Magnitude6
ClinVar
Risk rs63750796(A;A) rs63750796(T;T)
Alt rs63750796(A;A) rs63750796(T;T)
Reference Rs63750796(G;G)
Significance Pathogenic
Disease Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome I not specified Lynch syndrome II
Variation info
Gene MLH1
CLNDBN Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome I not specified Lynch syndrome II
Reversed 0
HGVS NC_000003.11:g.37061871G>A; NC_000003.11:g.37061871G>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000075945.2, RCV000115489.6, RCV000144597.1, RCV000212528.2, RCV000410221.1, RCV000075946.3,