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rs63750554

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Lynch syndrome, pathogenic mutation
Make rs63750554(C;G)
Make rs63750554(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position47806329
GeneMSH6
is asnp
is mentioned by
dbSNPrs63750554
dbSNP (classic)rs63750554
ClinGenrs63750554
ebirs63750554
HLIrs63750554
Exacrs63750554
Gnomadrs63750554
Varsomers63750554
LitVarrs63750554
Maprs63750554
PheGenIrs63750554
Biobankrs63750554
1000 genomesrs63750554
hgdprs63750554
ensemblrs63750554
geneviewrs63750554
scholarrs63750554
googlers63750554
pharmgkbrs63750554
gwascentralrs63750554
openSNPrs63750554
23andMers63750554
SNPshotrs63750554
SNPdbers63750554
MSV3drs63750554
GWAS Ctlgrs63750554
GMAF0.0004591
Max Magnitude6
ClinVar
Risk rs63750554(G;G) rs63750554(T;T)
Alt rs63750554(G;G) rs63750554(T;T)
Reference Rs63750554(C;C)
Significance Pathogenic
Disease Lynch syndrome not specified Hereditary cancer-predisposing syndrome
Variation info
Gene MSH6
CLNDBN Lynch syndrome not specified Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000002.11:g.48033468C>G; NC_000002.11:g.48033468C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000227470.2, RCV000479785.1, RCV000491197.1, RCV000074927.2,