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rs63750206

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 6 Lynch syndrome, pathogenic mutation
(C;G) 6 Lynch syndrome
(G;G) 0 common in clinvar
(G;T) 6 Lynch syndrome, pathogenic mutation
Make rs63750206(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position36996701
GeneMLH1
is asnp
is mentioned by
dbSNPrs63750206
dbSNP (classic)rs63750206
ClinGenrs63750206
ebirs63750206
HLIrs63750206
Exacrs63750206
Gnomadrs63750206
Varsomers63750206
LitVarrs63750206
Maprs63750206
PheGenIrs63750206
Biobankrs63750206
1000 genomesrs63750206
hgdprs63750206
ensemblrs63750206
geneviewrs63750206
scholarrs63750206
googlers63750206
pharmgkbrs63750206
gwascentralrs63750206
openSNPrs63750206
23andMers63750206
SNPshotrs63750206
SNPdbers63750206
MSV3drs63750206
GWAS Ctlgrs63750206
Merged fromRs121912959
Max Magnitude6
ClinVar
Risk rs63750206(A;A) rs63750206(T;T)
Alt rs63750206(A;A) rs63750206(T;T)
Reference Rs63750206(G;G)
Significance Pathogenic
Disease Lynch syndrome Hereditary cancer-predisposing syndrome not provided Lynch syndrome II Turcot syndrome
Variation info
Gene MLH1
CLNDBN Lynch syndrome Hereditary cancer-predisposing syndrome not provided Lynch syndrome II Turcot syndrome
Reversed 0
HGVS NC_000003.11:g.37038192G>A; NC_000003.11:g.37038192G>T
CLNSRC UniProtKB (protein) OMIM Allelic Variant
CLNACC RCV000075474.3, RCV000128871.5, RCV000202032.2, RCV000018618.28, RCV000018619.28, RCV000075475.2,