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rs63750778

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs63750778(C;T)
Make rs63750778(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position47416362
GeneMSH2
is asnp
is mentioned by
dbSNPrs63750778
ebirs63750778
HLIrs63750778
Exacrs63750778
Varsomers63750778
Maprs63750778
PheGenIrs63750778
hapmaprs63750778
1000 genomesrs63750778
hgdprs63750778
ensemblrs63750778
gopubmedrs63750778
geneviewrs63750778
scholarrs63750778
googlers63750778
pharmgkbrs63750778
gwascentralrs63750778
openSNPrs63750778
23andMers63750778
23andMe allrs63750778
SNP Nexus

SNPshotrs63750778
SNPdbers63750778
MSV3drs63750778
GWAS Ctlgrs63750778
Max Magnitude0
ClinVar
Risk rs63750778(T;T)
Alt rs63750778(T;T)
Reference rs63750778(C;C)
Significance Pathogenic
Disease Lynch syndrome Lynch syndrome I Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene MSH2
CLNDBN Lynch syndrome Lynch syndrome I Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000002.11:g.47643501C>T
CLNSRC HGMD International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000075997.2, RCV000153512.3, RCV000215536.1,