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rs587779070

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 6 Lynch syndrome, pathogenic mutation
Make rs587779070(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position47416428
GeneMSH2
is asnp
is mentioned by
dbSNPrs587779070
dbSNP (classic)rs587779070
ClinGenrs587779070
ebirs587779070
HLIrs587779070
Exacrs587779070
Gnomadrs587779070
Varsomers587779070
LitVarrs587779070
Maprs587779070
PheGenIrs587779070
Biobankrs587779070
1000 genomesrs587779070
hgdprs587779070
ensemblrs587779070
geneviewrs587779070
scholarrs587779070
googlers587779070
pharmgkbrs587779070
gwascentralrs587779070
openSNPrs587779070
23andMers587779070
SNPshotrs587779070
SNPdbers587779070
MSV3drs587779070
GWAS Ctlgrs587779070
Max Magnitude6
ClinVar
Risk rs587779070(T;T)
Alt rs587779070(T;T)
Reference Rs587779070(A;A)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47643567A>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076012.2,