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rs267608101

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;GTTT) 6 Lynch syndrome, pathogenic mutation
Make rs267608101(GTTT;GTTT)
ReferenceGRCh38 38.1/141
Chromosome2
Position47804993
GeneMSH6
is asnp
is mentioned by
dbSNPrs267608101
dbSNP (classic)rs267608101
ClinGenrs267608101
ebirs267608101
HLIrs267608101
Exacrs267608101
Gnomadrs267608101
Varsomers267608101
LitVarrs267608101
Maprs267608101
PheGenIrs267608101
Biobankrs267608101
1000 genomesrs267608101
hgdprs267608101
ensemblrs267608101
geneviewrs267608101
scholarrs267608101
googlers267608101
pharmgkbrs267608101
gwascentralrs267608101
openSNPrs267608101
23andMers267608101
SNPshotrs267608101
SNPdbers267608101
MSV3drs267608101
GWAS Ctlgrs267608101
Max Magnitude6

c.3519_3522dupGTTT (p.Thr1175Valfs)

23andMe name: i5037835

ClinVar
Risk rs267608101(TGTT;TGTT)
Alt rs267608101(TGTT;TGTT)
Reference Rs267608101(-;-)
Significance Pathogenic
Disease Lynch syndrome not provided
Variation info
Gene MSH6
CLNDBN Lynch syndrome not provided
Reversed 0
HGVS NC_000002.11:g.48032129_48032132dupGTTT
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000074876.2, RCV000201987.1,