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rs63751058

From SNPedia

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


Make rs63751058(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position47806325
GeneMSH6
is asnp
is mentioned by
dbSNPrs63751058
dbSNP (classic)rs63751058
ClinGenrs63751058
ebirs63751058
HLIrs63751058
Exacrs63751058
Gnomadrs63751058
Varsomers63751058
LitVarrs63751058
Maprs63751058
PheGenIrs63751058
Biobankrs63751058
1000 genomesrs63751058
hgdprs63751058
ensemblrs63751058
geneviewrs63751058
scholarrs63751058
googlers63751058
pharmgkbrs63751058
gwascentralrs63751058
openSNPrs63751058
23andMers63751058
SNPshotrs63751058
SNPdbers63751058
MSV3drs63751058
GWAS Ctlgrs63751058
Max Magnitude6

aka c.3768T>G, p.Tyr1256Ter, Y1256* and Y1256X

ClinVar
Risk rs63751058(G;G)
Alt rs63751058(G;G)
Reference Rs63751058(T;T)
Significance Pathogenic
Disease Lynch syndrome not provided Hereditary cancer-predisposing syndrome
Variation info
Gene MSH6
CLNDBN Lynch syndrome not provided Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000002.11:g.48033464T>G
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000074926.2, RCV000202271.1, RCV000491038.1,