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rs193922343

From SNPedia

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


Make rs193922343(-;-)
ReferenceGRCh38 38.1/141
Chromosome2
Position47806256
GeneMSH6
is asnp
is mentioned by
dbSNPrs193922343
dbSNP (classic)rs193922343
ClinGenrs193922343
ebirs193922343
HLIrs193922343
Exacrs193922343
Gnomadrs193922343
Varsomers193922343
LitVarrs193922343
Maprs193922343
PheGenIrs193922343
Biobankrs193922343
1000 genomesrs193922343
hgdprs193922343
ensemblrs193922343
geneviewrs193922343
scholarrs193922343
googlers193922343
pharmgkbrs193922343
gwascentralrs193922343
openSNPrs193922343
23andMers193922343
23andMe allrs193922343
SNPshotrs193922343
SNPdbers193922343
MSV3drs193922343
GWAS Ctlgrs193922343
Max Magnitude6

c.3699_3702delAGAA (p.Lys1233Asnfs); rs267608115 is functionally equivalent to rs193922343 and has been merged into it in dbSNP, but for frequency lookup in ExAc or gnomAD, use rs267608115.

23andMe name: i5037895

ClinVar
Risk rs193922343(-;-) Rs193922343(AAAG;AAAG)
Alt rs193922343(-;-) Rs193922343(AAAG;AAAG)
Reference Rs193922343(AGAA;AGAA)
Significance Pathogenic
Disease Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Variation info
Gene MSH6
CLNDBN Lynch syndrome Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000002.11:g.48033395_48033398delAGAA
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000030271.3, RCV000128914.4, RCV000202074.3,