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rs28756990

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28756990(G;T)
Make rs28756990(T;T)
ReferenceGRCh38 38.1/142
Chromosome14
Position75047435
GeneMLH3
is asnp
is mentioned by
dbSNPrs28756990
ebirs28756990
HLIrs28756990
Exacrs28756990
Varsomers28756990
Maprs28756990
PheGenIrs28756990
hapmaprs28756990
1000 genomesrs28756990
hgdprs28756990
ensemblrs28756990
gopubmedrs28756990
geneviewrs28756990
scholarrs28756990
googlers28756990
pharmgkbrs28756990
gwascentralrs28756990
openSNPrs28756990
23andMers28756990
23andMe allrs28756990
SNP Nexus

SNPshotrs28756990
SNPdbers28756990
MSV3drs28756990
GWAS Ctlgrs28756990
GMAF0.01653
Max Magnitude0
? (G;G) (G;T) (T;T) 28
OMIM604395
Desc
Variant0007
Relatedalso


ClinVar
Risk rs28756990(A,T;A,T)
Alt rs28756990(A,T;A,T)
Reference rs28756990(G;G)
Significance Pathogenic
Disease Endometrial carcinoma Hereditary nonpolyposis colorectal cancer type 7
Variation info
Gene MLH3
CLNDBN Endometrial carcinoma Hereditary nonpolyposis colorectal cancer type 7
Reversed 1
HGVS NC_000014.8:g.75514138C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000005900.2, RCV000005901.2,



GET Evidence
MLH3-V741F
aa_change Val741Phe
aa_change_short V741F
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.0228667
summary This variant is implicated in various familial cancers.