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rs121908380

From SNPedia

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


Make rs121908380(A;A)
ReferenceGRCh38 38.1/142
Chromosome1
Position45333449
GeneMUTYH
is asnp
is mentioned by
dbSNPrs121908380
dbSNP (classic)rs121908380
ClinGenrs121908380
ebirs121908380
HLIrs121908380
Exacrs121908380
Gnomadrs121908380
Varsomers121908380
LitVarrs121908380
Maprs121908380
PheGenIrs121908380
Biobankrs121908380
1000 genomesrs121908380
hgdprs121908380
ensemblrs121908380
geneviewrs121908380
scholarrs121908380
googlers121908380
pharmgkbrs121908380
gwascentralrs121908380
openSNPrs121908380
23andMers121908380
SNPshotrs121908380
SNPdbers121908380
MSV3drs121908380
GWAS Ctlgrs121908380
GMAF0.0009183
Max Magnitude3
OMIM604933
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121908380(A;A) rs121908380(T;T)
Alt rs121908380(A;A) rs121908380(T;T)
Reference Rs121908380(C;C)
Significance Pathogenic
Disease MYH-associated polyposis Hereditary cancer-predisposing syndrome not specified not provided
Variation info
Gene MUTYH
CLNDBN MYH-associated polyposis Hereditary cancer-predisposing syndrome not specified not provided
Reversed 1
HGVS NC_000001.10:g.45799121G>A; NC_000001.10:g.45799121G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000119223.7, RCV000126890.6, RCV000177119.1, RCV000005617.5, RCV000163049.4, RCV000486820.1,