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rs587779244

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TCT;C) 6 Lynch syndrome, pathogenic mutation
(TCT;TCT) 0 common in clinvar
Make rs587779244(C;C)
Make rs587779244(C;TCT)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position47800655
GeneMSH6
is asnp
is mentioned by
dbSNPrs587779244
dbSNP (classic)rs587779244
ClinGenrs587779244
ebirs587779244
HLIrs587779244
Exacrs587779244
Gnomadrs587779244
Varsomers587779244
LitVarrs587779244
Maprs587779244
PheGenIrs587779244
Biobankrs587779244
1000 genomesrs587779244
hgdprs587779244
ensemblrs587779244
geneviewrs587779244
scholarrs587779244
googlers587779244
pharmgkbrs587779244
gwascentralrs587779244
openSNPrs587779244
23andMers587779244
SNPshotrs587779244
SNPdbers587779244
MSV3drs587779244
GWAS Ctlgrs587779244
Max Magnitude6
ClinVar
Risk rs587779244(C;C)
Alt rs587779244(C;C)
Reference Rs587779244(TCT;TCT)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH6
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.48027794_48027796delTCTinsC
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000074773.2,