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rs63749849

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs63749849(C;T)
Make rs63749849(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47429812
GeneMSH2
is asnp
is mentioned by
dbSNPrs63749849
ebirs63749849
HLIrs63749849
Exacrs63749849
Varsomers63749849
Maprs63749849
PheGenIrs63749849
hapmaprs63749849
1000 genomesrs63749849
hgdprs63749849
ensemblrs63749849
gopubmedrs63749849
geneviewrs63749849
scholarrs63749849
googlers63749849
pharmgkbrs63749849
gwascentralrs63749849
openSNPrs63749849
23andMers63749849
23andMe allrs63749849
SNP Nexus

SNPshotrs63749849
SNPdbers63749849
MSV3drs63749849
GWAS Ctlgrs63749849
Max Magnitude0
ClinVar
Risk rs63749849(T;T)
Alt rs63749849(T;T)
Reference rs63749849(C;C)
Significance Pathogenic
Disease Lynch syndrome not provided Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene MSH2
CLNDBN Lynch syndrome not provided Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000002.11:g.47656951C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076049.2, RCV000202261.1, RCV000221364.1,