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rs63749999

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs63749999(C;T)
Make rs63749999(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47801086
GeneMSH6
is asnp
is mentioned by
dbSNPrs63749999
ebirs63749999
HLIrs63749999
Exacrs63749999
Varsomers63749999
Maprs63749999
PheGenIrs63749999
hapmaprs63749999
1000 genomesrs63749999
hgdprs63749999
ensemblrs63749999
gopubmedrs63749999
geneviewrs63749999
scholarrs63749999
googlers63749999
pharmgkbrs63749999
gwascentralrs63749999
openSNPrs63749999
23andMers63749999
23andMe allrs63749999
SNP Nexus

SNPshotrs63749999
SNPdbers63749999
MSV3drs63749999
GWAS Ctlgrs63749999
Max Magnitude0
ClinVar
Risk rs63749999(T;T)
Alt rs63749999(T;T)
Reference rs63749999(C;C)
Significance Pathogenic
Disease Lynch syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene MSH6
CLNDBN Lynch syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000002.11:g.48028225C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000074803.2, RCV000223452.1,