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rs63750006

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Lynch syndrome, pathogenic mutation
Make rs63750006(A;A)
Make rs63750006(A;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position47429920
GeneMSH2
is asnp
is mentioned by
dbSNPrs63750006
dbSNP (classic)rs63750006
ClinGenrs63750006
ebirs63750006
HLIrs63750006
Exacrs63750006
Gnomadrs63750006
Varsomers63750006
LitVarrs63750006
Maprs63750006
PheGenIrs63750006
Biobankrs63750006
1000 genomesrs63750006
hgdprs63750006
ensemblrs63750006
geneviewrs63750006
scholarrs63750006
googlers63750006
pharmgkbrs63750006
gwascentralrs63750006
openSNPrs63750006
23andMers63750006
SNPshotrs63750006
SNPdbers63750006
MSV3drs63750006
GWAS Ctlgrs63750006
GMAF0.001837
Max Magnitude6
ClinVar
Risk rs63750006(A;A) rs63750006(T;T)
Alt rs63750006(A;A) rs63750006(T;T)
Reference Rs63750006(C;C)
Significance Pathogenic
Disease Lynch syndrome not specified Hereditary cancer-predisposing syndrome not provided
Variation info
Gene MSH2
CLNDBN Lynch syndrome not specified Hereditary cancer-predisposing syndrome not provided
Reversed 0
HGVS NC_000002.11:g.47657059C>A; NC_000002.11:g.47657059C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000076079.2, RCV000121568.2, RCV000160643.5, RCV000076080.2, RCV000202277.1,