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rs28756986

From SNPedia

Orientationminus
Stabilizedplus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in clinvar
Make rs28756986(C;G)
ReferenceGRCh38 38.1/142
Chromosome14
Position75047786
GeneMLH3
is asnp
is mentioned by
dbSNPrs28756986
ebirs28756986
HLIrs28756986
Exacrs28756986
Varsomers28756986
Maprs28756986
PheGenIrs28756986
hapmaprs28756986
1000 genomesrs28756986
hgdprs28756986
ensemblrs28756986
gopubmedrs28756986
geneviewrs28756986
scholarrs28756986
googlers28756986
pharmgkbrs28756986
gwascentralrs28756986
openSNPrs28756986
23andMers28756986
23andMe allrs28756986
SNP Nexus

SNPshotrs28756986
SNPdbers28756986
MSV3drs28756986
GWAS Ctlgrs28756986
GMAF0.007805
Max Magnitude0
OMIM604395
DescCOLON CANCER, HEREDITARY NONPOLYPOSIS, TYPE 7
Variant0004
Relatedalso
Neighborrs28937871
Distance374


ClinVar
Risk rs28756986(C;C)
Alt rs28756986(C;C)
Reference rs28756986(G;G)
Significance Non-pathogenic
Disease Hereditary nonpolyposis colorectal cancer type 7 MLH3-Related Lynch Syndrome
Variation info
Gene MLH3
CLNDBN Hereditary nonpolyposis colorectal cancer type 7 MLH3-Related Lynch Syndrome
Reversed 1
HGVS NC_000014.8:g.75514489C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000005899.2, RCV000232137.1,



GET Evidence
MLH3-E624Q
aa_change Glu624Gln
aa_change_short E624Q
impact benign
qualified_impact Low clinical importance, Uncertain benign
overall_frequency 0.00817996
summary Probably benign, follow-up studies have failed to support any link with colorectal cancer and the protein function is identical to wildtype.