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rs267607892

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;T) 6 Lynch syndrome, pathogenic mutation
(-;TGTT) 6 Lynch syndrome, pathogenic mutation
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome3
Position37050651
GeneMLH1
is asnp
is mentioned by
dbSNPrs267607892
dbSNP (classic)rs267607892
ClinGenrs267607892
ebirs267607892
HLIrs267607892
Exacrs267607892
Gnomadrs267607892
Varsomers267607892
LitVarrs267607892
Maprs267607892
PheGenIrs267607892
Biobankrs267607892
1000 genomesrs267607892
hgdprs267607892
ensemblrs267607892
geneviewrs267607892
scholarrs267607892
googlers267607892
pharmgkbrs267607892
gwascentralrs267607892
openSNPrs267607892
23andMers267607892
SNPshotrs267607892
SNPdbers267607892
MSV3drs267607892
GWAS Ctlgrs267607892
Max Magnitude6
ClinVar
Risk Rs267607892(T;T) rs267607892(TGTT;TGTT)
Alt Rs267607892(T;T) rs267607892(TGTT;TGTT)
Reference Rs267607892(-;-)
Significance Pathogenic
Disease Lynch syndrome not provided
Variation info
Gene MLH1
CLNDBN Lynch syndrome not provided
Reversed 0
HGVS NC_000003.11:g.37092139_37092142dupTGTT; NC_000003.11:g.37092142dupT
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000075593.2, RCV000201988.1, RCV000075595.2,