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rs63750807

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;A) 6 Lynch syndrome, pathogenic mutation
Make rs63750807(A;A)
ReferenceGRCh38 38.1/141
Chromosome2
Position47445592
GeneMSH2
is asnp
is mentioned by
dbSNPrs63750807
dbSNP (classic)rs63750807
ClinGenrs63750807
ebirs63750807
HLIrs63750807
Exacrs63750807
Gnomadrs63750807
Varsomers63750807
LitVarrs63750807
Maprs63750807
PheGenIrs63750807
Biobankrs63750807
1000 genomesrs63750807
hgdprs63750807
ensemblrs63750807
geneviewrs63750807
scholarrs63750807
googlers63750807
pharmgkbrs63750807
gwascentralrs63750807
openSNPrs63750807
23andMers63750807
SNPshotrs63750807
SNPdbers63750807
MSV3drs63750807
GWAS Ctlgrs63750807
Max Magnitude6
ClinVar
Risk rs63750807(A;A)
Alt rs63750807(A;A)
Reference Rs63750807(-;-)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Lynch syndrome
Variation info
Gene MSH2
CLNDBN Hereditary cancer-predisposing syndrome Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47672731dup; NC_000002.11:g.47672731dupA
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000491560.1, RCV000076125.2,