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rs587778948

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;ACAT) 6 Lynch syndrome, pathogenic mutation
Make rs587778948(ACAT;ACAT)
ReferenceGRCh38.p2 38.2/144
Chromosome3
Position37047619
GeneMLH1
is asnp
is mentioned by
dbSNPrs587778948
dbSNP (classic)rs587778948
ClinGenrs587778948
ebirs587778948
HLIrs587778948
Exacrs587778948
Gnomadrs587778948
Varsomers587778948
LitVarrs587778948
Maprs587778948
PheGenIrs587778948
Biobankrs587778948
1000 genomesrs587778948
hgdprs587778948
ensemblrs587778948
geneviewrs587778948
scholarrs587778948
googlers587778948
pharmgkbrs587778948
gwascentralrs587778948
openSNPrs587778948
23andMers587778948
SNPshotrs587778948
SNPdbers587778948
MSV3drs587778948
GWAS Ctlgrs587778948
Max Magnitude6
ClinVar
Risk rs587778948(ATAC;ATAC)
Alt rs587778948(ATAC;ATAC)
Reference Rs587778948(-;-)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MLH1
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000003.11:g.37089107_37089110dupACAT
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000075375.2,