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rs587779169

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 6 Lynch syndrome, pathogenic mutation
Make rs587779169(G;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position47412412
GeneMSH2
is asnp
is mentioned by
dbSNPrs587779169
dbSNP (classic)rs587779169
ClinGenrs587779169
ebirs587779169
HLIrs587779169
Exacrs587779169
Gnomadrs587779169
Varsomers587779169
LitVarrs587779169
Maprs587779169
PheGenIrs587779169
Biobankrs587779169
1000 genomesrs587779169
hgdprs587779169
ensemblrs587779169
geneviewrs587779169
scholarrs587779169
googlers587779169
pharmgkbrs587779169
gwascentralrs587779169
openSNPrs587779169
23andMers587779169
SNPshotrs587779169
SNPdbers587779169
MSV3drs587779169
GWAS Ctlgrs587779169
Max Magnitude6

aka c.646-2A>G

ClinVar
Risk rs587779169(G;G)
Alt rs587779169(G;G)
Reference Rs587779169(A;A)
Significance Probable-Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47639551A>G
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076665.2,