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rs281864940

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281864940(-;-)
Make rs281864940(-;CA)
Make rs281864940(CA;CA)
ReferenceGRCh38 38.1/141
Chromosome3
Position37050537
GeneMLH1
is asnp
is mentioned by
dbSNPrs281864940
ebirs281864940
HLIrs281864940
Exacrs281864940
Varsomers281864940
Maprs281864940
PheGenIrs281864940
hapmaprs281864940
1000 genomesrs281864940
hgdprs281864940
ensemblrs281864940
gopubmedrs281864940
geneviewrs281864940
scholarrs281864940
googlers281864940
pharmgkbrs281864940
gwascentralrs281864940
openSNPrs281864940
23andMers281864940
23andMe allrs281864940
SNP Nexus

SNPshotrs281864940
SNPdbers281864940
MSV3drs281864940
GWAS Ctlgrs281864940
Max Magnitude0
ClinVar
Risk rs281864940(AATGTGTTCCACA,ACA;AATGTGTTCCACA,ACA)
Alt rs281864940(AATGTGTTCCACA,ACA;AATGTGTTCCACA,ACA)
Reference rs281864940(A;A)
Significance Pathogenic
Disease Lynch syndrome Lynch syndrome I
Variation info
Gene MLH1
CLNDBN Lynch syndrome Lynch syndrome I
Reversed 0
HGVS NC_000003.11:g.37092027_37092028dupCA; NC_000003.11:g.37092028_37092029insATGTGTTCCACA
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000075559.2, RCV000144602.1, RCV000075560.2,