Have questions? Visit https://www.reddit.com/r/SNPedia

rs63749995

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 6 Lynch syndrome, pathogenic mutation
(C;C) 0 common in clinvar


Make rs63749995(A;A)
ReferenceGRCh38 38.1/141
Chromosome3
Position37048998
GeneMLH1
is asnp
is mentioned by
dbSNPrs63749995
dbSNP (classic)rs63749995
ClinGenrs63749995
ebirs63749995
HLIrs63749995
Exacrs63749995
Gnomadrs63749995
Varsomers63749995
LitVarrs63749995
Maprs63749995
PheGenIrs63749995
Biobankrs63749995
1000 genomesrs63749995
hgdprs63749995
ensemblrs63749995
geneviewrs63749995
scholarrs63749995
googlers63749995
pharmgkbrs63749995
gwascentralrs63749995
openSNPrs63749995
23andMers63749995
SNPshotrs63749995
SNPdbers63749995
MSV3drs63749995
GWAS Ctlgrs63749995
Max Magnitude6
ClinVar
Risk rs63749995(A;A) rs63749995(G;G)
Alt rs63749995(A;A) rs63749995(G;G)
Reference Rs63749995(C;C)
Significance Pathogenic
Disease Lynch syndrome Hereditary cancer-predisposing syndrome
Variation info
Gene MLH1
CLNDBN Lynch syndrome Hereditary cancer-predisposing syndrome
Reversed 0
HGVS NC_000003.11:g.37090489C>A; NC_000003.11:g.37090489C>G
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000075523.2, RCV000215270.1,