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rs104894259

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;T) 5.8 Multiple Endocrine Neoplasia Type 1
(C;T) 5.8 Multiple Endocrine Neoplasia Type 1
(T;T) 0 common in clinvar


Make rs104894259(C;C)
ReferenceGRCh38 38.1/141
Chromosome11
Position64805078
GeneMAP4K2, MEN1
is asnp
is mentioned by
dbSNPrs104894259
dbSNP (classic)rs104894259
ClinGenrs104894259
ebirs104894259
HLIrs104894259
Exacrs104894259
Gnomadrs104894259
Varsomers104894259
LitVarrs104894259
Maprs104894259
PheGenIrs104894259
Biobankrs104894259
1000 genomesrs104894259
hgdprs104894259
ensemblrs104894259
geneviewrs104894259
scholarrs104894259
googlers104894259
pharmgkbrs104894259
gwascentralrs104894259
openSNPrs104894259
23andMers104894259
SNPshotrs104894259
SNPdbers104894259
MSV3drs104894259
GWAS Ctlgrs104894259
Max Magnitude5.8
OMIM131100
Desc
Variant0010
Relatedalso
ClinVar
Risk rs104894259(A;A) rs104894259(C;C)
Alt rs104894259(A;A) rs104894259(C;C)
Reference Rs104894259(T;T)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia not provided
Variation info
Gene MAP4K2 MEN1
CLNDBN Hereditary cancer-predisposing syndrome Multiple endocrine neoplasia, type 1 not provided
Reversed 1
HGVS NC_000011.9:g.64572550A>G; NC_000011.9:g.64572550A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000491105.1, RCV000018166.3, RCV000255755.1,