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rs63751891

From SNPedia

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


Make rs63751891(-;-)
ReferenceGRCh38 38.1/141
Chromosome3
Position36993562
GeneEPM2AIP1, MLH1
is asnp
is mentioned by
dbSNPrs63751891
dbSNP (classic)rs63751891
ClinGenrs63751891
ebirs63751891
HLIrs63751891
Exacrs63751891
Gnomadrs63751891
Varsomers63751891
LitVarrs63751891
Maprs63751891
PheGenIrs63751891
Biobankrs63751891
1000 genomesrs63751891
hgdprs63751891
ensemblrs63751891
geneviewrs63751891
scholarrs63751891
googlers63751891
pharmgkbrs63751891
gwascentralrs63751891
openSNPrs63751891
23andMers63751891
SNPshotrs63751891
SNPdbers63751891
MSV3drs63751891
GWAS Ctlgrs63751891
Max Magnitude6
ClinVar
Risk rs63751891(-;-)
Alt rs63751891(-;-)
Reference Rs63751891(GGCAGGGGTTATTC;GGCAGGGGTTATTC)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene EPM2AIP1 MLH1
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000003.11:g.37035053_37035066delAGGGGTTATTCGGC
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000075274.2,