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rs267608037

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;AG) 6 Lynch syndrome, pathogenic mutation
(AG;AG) 0 common in clinvar
(GA;GA) 0 common in clinvar


Make rs267608037(-;-)
ReferenceGRCh38 38.1/141
Chromosome2
Position47795958
GeneMSH6
is asnp
is mentioned by
dbSNPrs267608037
dbSNP (classic)rs267608037
ClinGenrs267608037
ebirs267608037
HLIrs267608037
Exacrs267608037
Gnomadrs267608037
Varsomers267608037
LitVarrs267608037
Maprs267608037
PheGenIrs267608037
Biobankrs267608037
1000 genomesrs267608037
hgdprs267608037
ensemblrs267608037
geneviewrs267608037
scholarrs267608037
googlers267608037
pharmgkbrs267608037
gwascentralrs267608037
openSNPrs267608037
23andMers267608037
SNPshotrs267608037
SNPdbers267608037
MSV3drs267608037
GWAS Ctlgrs267608037
Max Magnitude6

c.522_523delAG (p.Arg174Serfs)

23andMe name: i5037850

ClinVar
Risk rs267608037(-;-)
Alt rs267608037(-;-)
Reference Rs267608037(GA;GA)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH6
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.48023097_48023098delAG
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000075006.2,