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rs63750809

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;T) 6 Lynch syndrome, pathogenic mutation
(T;T) 0 common in clinvar
Make rs63750809(G;G)
Make rs63750809(G;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position37048952
GeneMLH1
is asnp
is mentioned by
dbSNPrs63750809
dbSNP (classic)rs63750809
ClinGenrs63750809
ebirs63750809
HLIrs63750809
Exacrs63750809
Gnomadrs63750809
Varsomers63750809
LitVarrs63750809
Maprs63750809
PheGenIrs63750809
Biobankrs63750809
1000 genomesrs63750809
hgdprs63750809
ensemblrs63750809
geneviewrs63750809
scholarrs63750809
googlers63750809
pharmgkbrs63750809
gwascentralrs63750809
openSNPrs63750809
23andMers63750809
SNPshotrs63750809
SNPdbers63750809
MSV3drs63750809
GWAS Ctlgrs63750809
Max Magnitude6
ClinVar
Risk rs63750809(C;C) rs63750809(G;G)
Alt rs63750809(C;C) rs63750809(G;G)
Reference Rs63750809(T;T)
Significance Pathogenic
Disease Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome I Lynch syndrome II not specified
Variation info
Gene MLH1
CLNDBN Lynch syndrome Hereditary cancer-predisposing syndrome Lynch syndrome I Lynch syndrome II not specified
Reversed 0
HGVS NC_000003.11:g.37090443T>C; NC_000003.11:g.37090443T>G
CLNSRC International Society for Gastrointestinal Hereditary Tumours
CLNACC RCV000075490.2, RCV000215088.1, RCV000490563.1, RCV000075491.2, RCV000411388.1, RCV000483931.1,