Have questions? Visit https://www.reddit.com/r/SNPedia

rs587779274

From SNPedia

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


Make rs587779274(-;-)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position47805670
GeneMSH6
is asnp
is mentioned by
dbSNPrs587779274
dbSNP (classic)rs587779274
ClinGenrs587779274
ebirs587779274
HLIrs587779274
Exacrs587779274
Gnomadrs587779274
Varsomers587779274
LitVarrs587779274
Maprs587779274
PheGenIrs587779274
Biobankrs587779274
1000 genomesrs587779274
hgdprs587779274
ensemblrs587779274
geneviewrs587779274
scholarrs587779274
googlers587779274
pharmgkbrs587779274
gwascentralrs587779274
openSNPrs587779274
23andMers587779274
SNPshotrs587779274
SNPdbers587779274
MSV3drs587779274
GWAS Ctlgrs587779274
Max Magnitude6

c.3609_3612delTGCA (p.His1203Glnfs)

23andMe name: i5037864

ClinVar
Risk rs587779274(-;-) Rs587779274(CATG;CATG)
Alt rs587779274(-;-) Rs587779274(CATG;CATG)
Reference Rs587779274(TGCA;TGCA)
Significance Pathogenic
Disease Lynch syndrome
Variation info
Gene MSH6
CLNDBN Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.48032809_48032812delTGCA
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000074893.2,