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rs63749983

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(I;I) 0
(T;T) 0 common in clinvar
Make rs63749983(-;-)
Make rs63749983(-;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47478449
GeneMSH2
is asnp
is mentioned by
dbSNPrs63749983
ebirs63749983
HLIrs63749983
Exacrs63749983
Varsomers63749983
Maprs63749983
PheGenIrs63749983
hapmaprs63749983
1000 genomesrs63749983
hgdprs63749983
ensemblrs63749983
gopubmedrs63749983
geneviewrs63749983
scholarrs63749983
googlers63749983
pharmgkbrs63749983
gwascentralrs63749983
openSNPrs63749983
23andMers63749983
23andMe allrs63749983
SNP Nexus

SNPshotrs63749983
SNPdbers63749983
MSV3drs63749983
GWAS Ctlgrs63749983
Max Magnitude0
ClinVar
Risk rs63749983(;)
Alt rs63749983(;)
Reference rs63749983(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.47705588delT
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000076465.2, RCV000219933.1,