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rs587776530

From SNPedia

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


Make rs587776530(-;-)
ReferenceGRCh38 38.1/142
Chromosome2
Position47463101
GeneMSH2
is asnp
is mentioned by
dbSNPrs587776530
dbSNP (classic)rs587776530
ClinGenrs587776530
ebirs587776530
HLIrs587776530
Exacrs587776530
Gnomadrs587776530
Varsomers587776530
LitVarrs587776530
Maprs587776530
PheGenIrs587776530
Biobankrs587776530
1000 genomesrs587776530
hgdprs587776530
ensemblrs587776530
geneviewrs587776530
scholarrs587776530
googlers587776530
pharmgkbrs587776530
gwascentralrs587776530
openSNPrs587776530
23andMers587776530
SNPshotrs587776530
SNPdbers587776530
MSV3drs587776530
GWAS Ctlgrs587776530
Max Magnitude6
ClinVar
Risk rs587776530(-;-) Rs587776530(AATG;AATG)
Alt rs587776530(-;-) Rs587776530(AATG;AATG)
Reference Rs587776530(ATGA;ATGA)
Significance Pathogenic
Disease Lynch syndrome I Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Variation info
Gene MSH2
CLNDBN Lynch syndrome I Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000002.11:g.47690240_47690243delATGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000001842.2, RCV000076166.2, RCV000166117.2, RCV000236889.1,