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rs587778934

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;TTATA) 6 Lynch syndrome, pathogenic mutation
Make rs587778934(TTATA;TTATA)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position37040270
GeneMLH1
is asnp
is mentioned by
dbSNPrs587778934
dbSNP (classic)rs587778934
ClinGenrs587778934
ebirs587778934
HLIrs587778934
Exacrs587778934
Gnomadrs587778934
Varsomers587778934
LitVarrs587778934
Maprs587778934
PheGenIrs587778934
Biobankrs587778934
1000 genomesrs587778934
hgdprs587778934
ensemblrs587778934
geneviewrs587778934
scholarrs587778934
googlers587778934
pharmgkbrs587778934
gwascentralrs587778934
openSNPrs587778934
23andMers587778934
SNPshotrs587778934
SNPdbers587778934
MSV3drs587778934
GWAS Ctlgrs587778934
Max Magnitude6
ClinVar
Risk rs587778934(TTATA;TTATA)
Alt rs587778934(TTATA;TTATA)
Reference Rs587778934(-;-)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MLH1
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000003.11:g.37081757_37081761dupTTATA
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000075287.2,