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rs104894261

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 5.8 Multiple Endocrine Neoplasia Type 1
Make rs104894261(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position64804588
GeneMAP4K2, MEN1
is asnp
is mentioned by
dbSNPrs104894261
dbSNP (classic)rs104894261
ClinGenrs104894261
ebirs104894261
HLIrs104894261
Exacrs104894261
Gnomadrs104894261
Varsomers104894261
LitVarrs104894261
Maprs104894261
PheGenIrs104894261
Biobankrs104894261
1000 genomesrs104894261
hgdprs104894261
ensemblrs104894261
geneviewrs104894261
scholarrs104894261
googlers104894261
pharmgkbrs104894261
gwascentralrs104894261
openSNPrs104894261
23andMers104894261
SNPshotrs104894261
SNPdbers104894261
MSV3drs104894261
GWAS Ctlgrs104894261
Max Magnitude5.8
OMIM131100
Desc
Variant0012
Relatedalso
ClinVar
Risk rs104894261(T;T)
Alt rs104894261(T;T)
Reference Rs104894261(C;C)
Significance Pathogenic
Disease Multiple endocrine neoplasia not provided Hereditary cancer-predisposing syndrome
Variation info
Gene MAP4K2 MEN1
CLNDBN Multiple endocrine neoplasia, type 1 not provided Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000011.9:g.64572060G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018168.2, RCV000182423.3, RCV000491431.1,