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rs121912962

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAG;AAG) 0 common in clinvar
(GAA;GAA) 0 common in clinvar
Make rs121912962(-;-)
Make rs121912962(-;AAG)
ReferenceGRCh38 38.1/141
Chromosome3
Position37047633
GeneMLH1
is asnp
is mentioned by
dbSNPrs121912962
ebirs121912962
HLIrs121912962
Exacrs121912962
Varsomers121912962
Maprs121912962
PheGenIrs121912962
hapmaprs121912962
1000 genomesrs121912962
hgdprs121912962
ensemblrs121912962
gopubmedrs121912962
geneviewrs121912962
scholarrs121912962
googlers121912962
pharmgkbrs121912962
gwascentralrs121912962
openSNPrs121912962
23andMers121912962
23andMe allrs121912962
SNP Nexus

SNPshotrs121912962
SNPdbers121912962
MSV3drs121912962
GWAS Ctlgrs121912962
Max Magnitude0
OMIM120436
Desc
Variant0018
Relatedalso
ClinVar
Risk rs121912962(;)
Alt rs121912962(;)
Reference rs121912962(GAA;GAA)
Significance Pathogenic
Disease Turcot syndrome Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome II not provided
Variation info
Gene MLH1
CLNDBN Turcot syndrome Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome II not provided
Reversed 0
HGVS NC_000003.11:g.37089130_37089132delAAG
CLNSRC International Society for Gastrointestinal Hereditary Tumours OMIM Allelic Variant
CLNACC RCV000018609.27, RCV000075383.4, RCV000129328.4, RCV000192399.2, RCV000202279.2,