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rs28929483

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28929483(C;T)
Make rs28929483(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47475130
GeneMSH2
is asnp
is mentioned by
dbSNPrs28929483
ebirs28929483
HLIrs28929483
Exacrs28929483
Varsomers28929483
Maprs28929483
PheGenIrs28929483
hapmaprs28929483
1000 genomesrs28929483
hgdprs28929483
ensemblrs28929483
gopubmedrs28929483
geneviewrs28929483
scholarrs28929483
googlers28929483
pharmgkbrs28929483
gwascentralrs28929483
openSNPrs28929483
23andMers28929483
23andMe allrs28929483
SNP Nexus

SNPshotrs28929483
SNPdbers28929483
MSV3drs28929483
GWAS Ctlgrs28929483
Max Magnitude0
OMIM609309
DescCOLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1
Variant0001
Relatedalso
ClinVar
Risk rs28929483(T;T)
Alt rs28929483(T;T)
Reference rs28929483(C;C)
Significance Pathogenic
Disease Lynch syndrome I Lynch syndrome
Variation info
Gene MSH2
CLNDBN Lynch syndrome I Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.47702269C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours OMIM Allelic Variant
CLNACC RCV000001823.2, RCV000076307.2,