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rs63749914

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs63749914(A;A)
Make rs63749914(A;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47414381
GeneMSH2
is asnp
is mentioned by
dbSNPrs63749914
ebirs63749914
HLIrs63749914
Exacrs63749914
Varsomers63749914
Maprs63749914
PheGenIrs63749914
hapmaprs63749914
1000 genomesrs63749914
hgdprs63749914
ensemblrs63749914
gopubmedrs63749914
geneviewrs63749914
scholarrs63749914
googlers63749914
pharmgkbrs63749914
gwascentralrs63749914
openSNPrs63749914
23andMers63749914
23andMe allrs63749914
SNP Nexus

SNPshotrs63749914
SNPdbers63749914
MSV3drs63749914
GWAS Ctlgrs63749914
Max Magnitude0
ClinVar
Risk rs63749914(A;A)
Alt rs63749914(A;A)
Reference rs63749914(T;T)
Significance Pathogenic
Disease Lynch syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene MSH2
CLNDBN Lynch syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000002.11:g.47641520T>A; NC_000002.11:g.47641520T>C
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076747.2, RCV000217750.1,