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rs63749980

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs63749980(C;T)
Make rs63749980(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47798725
GeneMSH6
is asnp
is mentioned by
dbSNPrs63749980
ebirs63749980
HLIrs63749980
Exacrs63749980
Varsomers63749980
Maprs63749980
PheGenIrs63749980
hapmaprs63749980
1000 genomesrs63749980
hgdprs63749980
ensemblrs63749980
gopubmedrs63749980
geneviewrs63749980
scholarrs63749980
googlers63749980
pharmgkbrs63749980
gwascentralrs63749980
openSNPrs63749980
23andMers63749980
23andMe allrs63749980
SNP Nexus

SNPshotrs63749980
SNPdbers63749980
MSV3drs63749980
GWAS Ctlgrs63749980
Max Magnitude0
ClinVar
Risk rs63749980(A,G,T;A,G,T)
Alt rs63749980(A,G,T;A,G,T)
Reference rs63749980(C;C)
Significance Pathogenic
Disease not provided Tumor susceptibility linked to germline BAP1 mutations Lynch syndrome
Variation info
Gene MSH6
CLNDBN not provided Tumor susceptibility linked to germline BAP1 mutations Lynch syndrome
Reversed 0
HGVS NC_000002.11:g.48025864C>G; NC_000002.11:g.48025864C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000178052.1, RCV000215538.1, RCV000226497.1, RCV000075032.3,