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rs587776705

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;GTG) 5 Variant of uncertain significance; possible Lynch syndrome mutation
(GTG;GTG) 0 common in clinvar


Make rs587776705(-;-)
ReferenceGRCh38 38.1/142
Chromosome2
Position47803633
GeneMSH6
is asnp
is mentioned by
dbSNPrs587776705
dbSNP (classic)rs587776705
ClinGenrs587776705
ebirs587776705
HLIrs587776705
Exacrs587776705
Gnomadrs587776705
Varsomers587776705
LitVarrs587776705
Maprs587776705
PheGenIrs587776705
Biobankrs587776705
1000 genomesrs587776705
hgdprs587776705
ensemblrs587776705
geneviewrs587776705
scholarrs587776705
googlers587776705
pharmgkbrs587776705
gwascentralrs587776705
openSNPrs587776705
23andMers587776705
SNPshotrs587776705
SNPdbers587776705
MSV3drs587776705
GWAS Ctlgrs587776705
Max Magnitude5

c.3386_3388delGTG (p.Cys1129_Val1130delinsLeu)

23andMe name: i5901124

ClinVar
Risk rs587776705(-;-)
Alt rs587776705(-;-)
Reference Rs587776705(GTG;GTG)
Significance Pathogenic
Disease Turcot syndrome Lynch syndrome
Variation info
Gene MSH6
CLNDBN Turcot syndrome Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.48030772_48030774delGTG
CLNSRC OMIM Allelic Variant
CLNACC RCV000009496.5, RCV000074846.2,