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rs267608085

From SNPedia

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


Make rs267608085(-;-)
ReferenceGRCh38 38.1/141
Chromosome2
Position47803442
GeneMSH6
is asnp
is mentioned by
dbSNPrs267608085
dbSNP (old)rs267608085
ClinGenrs267608085
ebirs267608085
HLIrs267608085
Exacrs267608085
Gnomadrs267608085
Varsomers267608085
Maprs267608085
PheGenIrs267608085
Biobankrs267608085
1000 genomesrs267608085
hgdprs267608085
ensemblrs267608085
gopubmedrs267608085
geneviewrs267608085
scholarrs267608085
googlers267608085
pharmgkbrs267608085
gwascentralrs267608085
openSNPrs267608085
23andMers267608085
23andMe allrs267608085
SNPshotrs267608085
SNPdbers267608085
MSV3drs267608085
GWAS Ctlgrs267608085
Max Magnitude6

c.3195_3198delCTAT (p.Asn1065Lysfs)

23andMe name: i5037877

ClinVar
Risk rs267608085(-;-)
Alt rs267608085(-;-)
Reference Rs267608085(CTAT;CTAT)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH6
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.48030581_48030584delCTAT
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000074815.2,