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rs63750781

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Lynch syndrome, pathogenic mutation
Make rs63750781(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position37004444
GeneMLH1
is asnp
is mentioned by
dbSNPrs63750781
dbSNP (classic)rs63750781
ClinGenrs63750781
ebirs63750781
HLIrs63750781
Exacrs63750781
Gnomadrs63750781
Varsomers63750781
LitVarrs63750781
Maprs63750781
PheGenIrs63750781
Biobankrs63750781
1000 genomesrs63750781
hgdprs63750781
ensemblrs63750781
geneviewrs63750781
scholarrs63750781
googlers63750781
pharmgkbrs63750781
gwascentralrs63750781
openSNPrs63750781
23andMers63750781
SNPshotrs63750781
SNPdbers63750781
MSV3drs63750781
GWAS Ctlgrs63750781
Merged fromRs121912961
Max Magnitude6
ClinVar
Risk rs63750781(G;G) rs63750781(T;T)
Alt rs63750781(G;G) rs63750781(T;T)
Reference Rs63750781(C;C)
Significance Other
Disease Lynch syndrome not provided Lynch syndrome II Lynch syndrome I
Variation info
Gene MLH1
CLNDBN Lynch syndrome not provided Lynch syndrome II Lynch syndrome I
Reversed 0
HGVS NC_000003.11:g.37045935C>G; NC_000003.11:g.37045935C>T
CLNSRC UniProtKB (protein) OMIM Allelic Variant
CLNACC RCV000075665.2, RCV000202256.1, RCV000018626.23, RCV000075666.5, RCV000144599.1, RCV000160518.3,