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rs63750019

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs63750019(C;T)
Make rs63750019(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47798701
GeneMSH6
is asnp
is mentioned by
dbSNPrs63750019
ebirs63750019
HLIrs63750019
Exacrs63750019
Varsomers63750019
Maprs63750019
PheGenIrs63750019
hapmaprs63750019
1000 genomesrs63750019
hgdprs63750019
ensemblrs63750019
gopubmedrs63750019
geneviewrs63750019
scholarrs63750019
googlers63750019
pharmgkbrs63750019
gwascentralrs63750019
openSNPrs63750019
23andMers63750019
23andMe allrs63750019
SNP Nexus

SNPshotrs63750019
SNPdbers63750019
MSV3drs63750019
GWAS Ctlgrs63750019
Max Magnitude0
ClinVar
Risk rs63750019(A,T;A,T)
Alt rs63750019(A,T;A,T)
Reference rs63750019(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.48025840C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000075028.2, RCV000220361.1,