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rs63749843

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs63749843(C;G)
Make rs63749843(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position47803449
GeneMSH6
is asnp
is mentioned by
dbSNPrs63749843
ebirs63749843
HLIrs63749843
Exacrs63749843
Varsomers63749843
Maprs63749843
PheGenIrs63749843
hapmaprs63749843
1000 genomesrs63749843
hgdprs63749843
ensemblrs63749843
gopubmedrs63749843
geneviewrs63749843
scholarrs63749843
googlers63749843
pharmgkbrs63749843
gwascentralrs63749843
openSNPrs63749843
23andMers63749843
23andMe allrs63749843
SNP Nexus

SNPshotrs63749843
SNPdbers63749843
MSV3drs63749843
GWAS Ctlgrs63749843
Max Magnitude0
ClinVar
Risk rs63749843(G,T;G,T)
Alt rs63749843(G,T;G,T)
Reference rs63749843(C;C)
Significance Pathogenic
Disease Tumor susceptibility linked to germline BAP1 mutations Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome I not provided
Variation info
Gene MSH6
CLNDBN Tumor susceptibility linked to germline BAP1 mutations Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome I not provided
Reversed 0
HGVS NC_000002.11:g.48030588C>A; NC_000002.11:g.48030588C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000218336.1, RCV000074817.3, RCV000160692.3, RCV000172816.1, RCV000201960.1,