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rs63750563

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Lynch syndrome, pathogenic mutation
Make rs63750563(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47800996
GeneMSH6
is asnp
is mentioned by
dbSNPrs63750563
dbSNP (classic)rs63750563
ClinGenrs63750563
ebirs63750563
HLIrs63750563
Exacrs63750563
Gnomadrs63750563
Varsomers63750563
LitVarrs63750563
Maprs63750563
PheGenIrs63750563
Biobankrs63750563
1000 genomesrs63750563
hgdprs63750563
ensemblrs63750563
geneviewrs63750563
scholarrs63750563
googlers63750563
pharmgkbrs63750563
gwascentralrs63750563
openSNPrs63750563
23andMers63750563
SNPshotrs63750563
SNPdbers63750563
MSV3drs63750563
GWAS Ctlgrs63750563
Max Magnitude6
ClinVar
Risk rs63750563(T;T)
Alt rs63750563(T;T)
Reference Rs63750563(C;C)
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.48028135C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000074795.2, RCV000202164.2, RCV000491215.1,