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rs587779045

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;A) 6 Lynch syndrome, pathogenic mutation
(A;A) 0 common in clinvar


Make rs587779045(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position36993631
GeneEPM2AIP1, MLH1
is asnp
is mentioned by
dbSNPrs587779045
dbSNP (classic)rs587779045
ClinGenrs587779045
ebirs587779045
HLIrs587779045
Exacrs587779045
Gnomadrs587779045
Varsomers587779045
LitVarrs587779045
Maprs587779045
PheGenIrs587779045
Biobankrs587779045
1000 genomesrs587779045
hgdprs587779045
ensemblrs587779045
geneviewrs587779045
scholarrs587779045
googlers587779045
pharmgkbrs587779045
gwascentralrs587779045
openSNPrs587779045
23andMers587779045
SNPshotrs587779045
SNPdbers587779045
MSV3drs587779045
GWAS Ctlgrs587779045
Max Magnitude6
ClinVar
Risk rs587779045(-;-)
Alt rs587779045(-;-)
Reference Rs587779045(A;A)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene EPM2AIP1 MLH1
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000003.11:g.37035122delA
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000075885.2,