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rs587782730

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;T) 3 Carrier of a MUTYH-related familial adenomatous polyposis mutation
(G;T) 3 Carrier of a MUTYH-related familial adenomatous polyposis mutation
(T;T) 0 common in clinvar


Make rs587782730(C;C)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position45332916
GeneMUTYH
is asnp
is mentioned by
dbSNPrs587782730
dbSNP (classic)rs587782730
ClinGenrs587782730
ebirs587782730
HLIrs587782730
Exacrs587782730
Gnomadrs587782730
Varsomers587782730
LitVarrs587782730
Maprs587782730
PheGenIrs587782730
Biobankrs587782730
1000 genomesrs587782730
hgdprs587782730
ensemblrs587782730
geneviewrs587782730
scholarrs587782730
googlers587782730
pharmgkbrs587782730
gwascentralrs587782730
openSNPrs587782730
23andMers587782730
SNPshotrs587782730
SNPdbers587782730
MSV3drs587782730
GWAS Ctlgrs587782730
Max Magnitude3
ClinVar
Risk rs587782730(C;C) rs587782730(G;G)
Alt rs587782730(C;C) rs587782730(G;G)
Reference Rs587782730(T;T)
Significance Probable-Pathogenic
Disease MYH-associated polyposis Hereditary cancer-predisposing syndrome
Variation info
Gene MUTYH
CLNDBN MYH-associated polyposis Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000001.10:g.45798588A>C; NC_000001.10:g.45798588A>G
CLNSRC
CLNACC RCV000196093.1, RCV000132227.2,