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rs63750144

From SNPedia

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


Make rs63750144(A;A)
ReferenceGRCh38 38.1/141
Chromosome3
Position37017599
GeneMLH1
is asnp
is mentioned by
dbSNPrs63750144
dbSNP (classic)rs63750144
ClinGenrs63750144
ebirs63750144
HLIrs63750144
Exacrs63750144
Gnomadrs63750144
Varsomers63750144
LitVarrs63750144
Maprs63750144
PheGenIrs63750144
Biobankrs63750144
1000 genomesrs63750144
hgdprs63750144
ensemblrs63750144
geneviewrs63750144
scholarrs63750144
googlers63750144
pharmgkbrs63750144
gwascentralrs63750144
openSNPrs63750144
23andMers63750144
SNPshotrs63750144
SNPdbers63750144
MSV3drs63750144
GWAS Ctlgrs63750144
Max Magnitude6
ClinVar
Risk rs63750144(A;A) rs63750144(C;C)
Alt rs63750144(A;A) rs63750144(C;C)
Reference Rs63750144(G;G)
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.37059090G>A; NC_000003.11:g.37059090G>C
CLNSRC UniProtKB (protein)
CLNACC RCV000075908.2, RCV000215143.1, RCV000075909.2,