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rs63750016

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs63750016(A;A)
Make rs63750016(A;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position37047553
GeneMLH1
is asnp
is mentioned by
dbSNPrs63750016
ebirs63750016
HLIrs63750016
Exacrs63750016
Varsomers63750016
Maprs63750016
PheGenIrs63750016
hapmaprs63750016
1000 genomesrs63750016
hgdprs63750016
ensemblrs63750016
gopubmedrs63750016
geneviewrs63750016
scholarrs63750016
googlers63750016
pharmgkbrs63750016
gwascentralrs63750016
openSNPrs63750016
23andMers63750016
23andMe allrs63750016
SNP Nexus

SNPshotrs63750016
SNPdbers63750016
MSV3drs63750016
GWAS Ctlgrs63750016
Max Magnitude0
ClinVar
Risk rs63750016(A;A)
Alt rs63750016(A;A)
Reference rs63750016(C;C)
Significance Probable-Pathogenic
Disease Lynch syndrome Tumor susceptibility linked to germline BAP1 mutations
Variation info
Gene MLH1
CLNDBN Lynch syndrome Tumor susceptibility linked to germline BAP1 mutations
Reversed 0
HGVS NC_000003.11:g.37089044C>A; NC_000003.11:g.37089044C>T
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000075360.2, RCV000215690.1,