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rs587779123

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;TAAAAAACCTG) 6 Lynch syndrome, pathogenic mutation
(GTAAAAAACCT;GTAAAAAACCT) 0 common in clinvar
(TAAAAAACCTG;TAAAAAACCTG) 0 common/normal


Make rs587779123(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position47475272
GeneMSH2
is asnp
is mentioned by
dbSNPrs587779123
dbSNP (classic)rs587779123
ClinGenrs587779123
ebirs587779123
HLIrs587779123
Exacrs587779123
Gnomadrs587779123
Varsomers587779123
LitVarrs587779123
Maprs587779123
PheGenIrs587779123
Biobankrs587779123
1000 genomesrs587779123
hgdprs587779123
ensemblrs587779123
geneviewrs587779123
scholarrs587779123
googlers587779123
pharmgkbrs587779123
gwascentralrs587779123
openSNPrs587779123
23andMers587779123
SNPshotrs587779123
SNPdbers587779123
MSV3drs587779123
GWAS Ctlgrs587779123
Max Magnitude6
ClinVar
Risk rs587779123(-;-)
Alt rs587779123(-;-)
Reference Rs587779123(GTAAAAAACCT;GTAAAAAACCT)
Significance Probable-Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47702411_47702421delTAAAAAACCTG
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076342.2,