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rs63750216

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs63750216(C;G)
Make rs63750216(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position36993633
GeneEPM2AIP1, MLH1
is asnp
is mentioned by
dbSNPrs63750216
ebirs63750216
HLIrs63750216
Exacrs63750216
Varsomers63750216
Maprs63750216
PheGenIrs63750216
hapmaprs63750216
1000 genomesrs63750216
hgdprs63750216
ensemblrs63750216
gopubmedrs63750216
geneviewrs63750216
scholarrs63750216
googlers63750216
pharmgkbrs63750216
gwascentralrs63750216
openSNPrs63750216
23andMers63750216
23andMe allrs63750216
SNP Nexus

SNPshotrs63750216
SNPdbers63750216
MSV3drs63750216
GWAS Ctlgrs63750216
Max Magnitude0
ClinVar
Risk rs63750216(G;G)
Alt rs63750216(G;G)
Reference rs63750216(C;C)
Significance Pathogenic
Disease Lynch syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene EPM2AIP1 MLH1
CLNDBN Lynch syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000003.11:g.37035124C>G
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000075896.2, RCV000218998.1,