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rs63751275

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Lynch syndrome, pathogenic mutation
Make rs63751275(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position37048973
GeneMLH1
is asnp
is mentioned by
dbSNPrs63751275
dbSNP (classic)rs63751275
ClinGenrs63751275
ebirs63751275
HLIrs63751275
Exacrs63751275
Gnomadrs63751275
Varsomers63751275
LitVarrs63751275
Maprs63751275
PheGenIrs63751275
Biobankrs63751275
1000 genomesrs63751275
hgdprs63751275
ensemblrs63751275
geneviewrs63751275
scholarrs63751275
googlers63751275
pharmgkbrs63751275
gwascentralrs63751275
openSNPrs63751275
23andMers63751275
SNPshotrs63751275
SNPdbers63751275
MSV3drs63751275
GWAS Ctlgrs63751275
Max Magnitude6
ClinVar
Risk rs63751275(G;G) rs63751275(T;T)
Alt rs63751275(G;G) rs63751275(T;T)
Reference Rs63751275(C;C)
Significance Pathogenic
Disease Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome II not provided
Variation info
Gene MLH1
CLNDBN Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome II not provided
Reversed 0
HGVS NC_000003.11:g.37090464C>G; NC_000003.11:g.37090464C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000475409.1, RCV000075499.3, RCV000215428.1, RCV000411954.1, RCV000481137.1,