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rs63751596

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 6 Lynch syndrome
(G;G) 0 common in clinvar
(G;T) 6 Lynch syndrome, pathogenic mutation
Make rs63751596(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position37040294
GeneMLH1
is asnp
is mentioned by
dbSNPrs63751596
dbSNP (classic)rs63751596
ClinGenrs63751596
ebirs63751596
HLIrs63751596
Exacrs63751596
Gnomadrs63751596
Varsomers63751596
LitVarrs63751596
Maprs63751596
PheGenIrs63751596
Biobankrs63751596
1000 genomesrs63751596
hgdprs63751596
ensemblrs63751596
geneviewrs63751596
scholarrs63751596
googlers63751596
pharmgkbrs63751596
gwascentralrs63751596
openSNPrs63751596
23andMers63751596
SNPshotrs63751596
SNPdbers63751596
MSV3drs63751596
GWAS Ctlgrs63751596
Max Magnitude6
ClinVar
Risk rs63751596(C;C) rs63751596(T;T)
Alt rs63751596(C;C) rs63751596(T;T)
Reference Rs63751596(G;G)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Lynch syndrome
Variation info
Gene MLH1
CLNDBN Hereditary cancer-predisposing syndrome Lynch syndrome
Reversed 0
HGVS NC_000003.11:g.37081785G>C; NC_000003.11:g.37081785G>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000164556.2, RCV000075299.2,