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rs587779008

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 Lynch syndrome, pathogenic mutation
Make rs587779008(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position36993584
GeneEPM2AIP1, MLH1
is asnp
is mentioned by
dbSNPrs587779008
dbSNP (classic)rs587779008
ClinGenrs587779008
ebirs587779008
HLIrs587779008
Exacrs587779008
Gnomadrs587779008
Varsomers587779008
LitVarrs587779008
Maprs587779008
PheGenIrs587779008
Biobankrs587779008
1000 genomesrs587779008
hgdprs587779008
ensemblrs587779008
geneviewrs587779008
scholarrs587779008
googlers587779008
pharmgkbrs587779008
gwascentralrs587779008
openSNPrs587779008
23andMers587779008
SNPshotrs587779008
SNPdbers587779008
MSV3drs587779008
GWAS Ctlgrs587779008
Max Magnitude6
ClinVar
Risk rs587779008(A;A) rs587779008(C;C) rs587779008(T;T)
Alt rs587779008(A;A) rs587779008(C;C) rs587779008(T;T)
Reference Rs587779008(G;G)
Significance Pathogenic
Disease Lynch syndrome I Hereditary cancer-predisposing syndrome Lynch syndrome
Variation info
Gene EPM2AIP1 MLH1
CLNDBN Lynch syndrome I Hereditary cancer-predisposing syndrome Lynch syndrome
Reversed 0
HGVS NC_000003.11:g.37035075G>A; NC_000003.11:g.37035075G>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000172808.1, RCV000220749.1, RCV000075677.2, RCV000162469.2,