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rs587778996

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6 Lynch syndrome, pathogenic mutation
Make rs587778996(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position36993569
GeneEPM2AIP1, MLH1
is asnp
is mentioned by
dbSNPrs587778996
dbSNP (classic)rs587778996
ClinGenrs587778996
ebirs587778996
HLIrs587778996
Exacrs587778996
Gnomadrs587778996
Varsomers587778996
LitVarrs587778996
Maprs587778996
PheGenIrs587778996
Biobankrs587778996
1000 genomesrs587778996
hgdprs587778996
ensemblrs587778996
geneviewrs587778996
scholarrs587778996
googlers587778996
pharmgkbrs587778996
gwascentralrs587778996
openSNPrs587778996
23andMers587778996
SNPshotrs587778996
SNPdbers587778996
MSV3drs587778996
GWAS Ctlgrs587778996
Max Magnitude6
ClinVar
Risk rs587778996(A;A)
Alt rs587778996(A;A)
Reference Rs587778996(-;-)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene EPM2AIP1 MLH1
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000003.11:g.37035060dupA
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000075597.2,