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rs587779182

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;TG) 6 Likely miscall in 23andMe v5 data; otherwise, Lynch syndrome, pathogenic mutation
(GT;GT) 0 common in clinvar
(TG;TG) 0 common/normal


Make rs587779182(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position47403114
GeneMSH2
is asnp
is mentioned by
dbSNPrs587779182
dbSNP (classic)rs587779182
ClinGenrs587779182
ebirs587779182
HLIrs587779182
Exacrs587779182
Gnomadrs587779182
Varsomers587779182
LitVarrs587779182
Maprs587779182
PheGenIrs587779182
Biobankrs587779182
1000 genomesrs587779182
hgdprs587779182
ensemblrs587779182
geneviewrs587779182
scholarrs587779182
googlers587779182
pharmgkbrs587779182
gwascentralrs587779182
openSNPrs587779182
23andMers587779182
SNPshotrs587779182
SNPdbers587779182
MSV3drs587779182
GWAS Ctlgrs587779182
Max Magnitude6

aka c.-68-10_-68-9delTG

ClinVar
Risk rs587779182(-;-)
Alt rs587779182(-;-)
Reference Rs587779182(GT;GT)
Significance Probable-Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47630253_47630254delTG
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000075989.2,