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rs63751012

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs63751012(G;T)
Make rs63751012(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position36993656
GeneEPM2AIP1, MLH1
is asnp
is mentioned by
dbSNPrs63751012
ebirs63751012
HLIrs63751012
Exacrs63751012
Varsomers63751012
Maprs63751012
PheGenIrs63751012
hapmaprs63751012
1000 genomesrs63751012
hgdprs63751012
ensemblrs63751012
gopubmedrs63751012
geneviewrs63751012
scholarrs63751012
googlers63751012
pharmgkbrs63751012
gwascentralrs63751012
openSNPrs63751012
23andMers63751012
23andMe allrs63751012
SNP Nexus

SNPshotrs63751012
SNPdbers63751012
MSV3drs63751012
GWAS Ctlgrs63751012
Max Magnitude0
ClinVar
Risk rs63751012(A,T;A,T)
Alt rs63751012(A,T;A,T)
Reference rs63751012(G;G)
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.37035147G>A; NC_000003.11:g.37035147G>C; NC_000003.11:g.37035147G>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000075110.2, RCV000221562.1, RCV000075111.2,