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rs104894267

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 5.8 Multiple Endocrine Neoplasia Type 1
Make rs104894267(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position64804789
GeneMAP4K2, MEN1
is asnp
is mentioned by
dbSNPrs104894267
dbSNP (classic)rs104894267
ClinGenrs104894267
ebirs104894267
HLIrs104894267
Exacrs104894267
Gnomadrs104894267
Varsomers104894267
LitVarrs104894267
Maprs104894267
PheGenIrs104894267
Biobankrs104894267
1000 genomesrs104894267
hgdprs104894267
ensemblrs104894267
geneviewrs104894267
scholarrs104894267
googlers104894267
pharmgkbrs104894267
gwascentralrs104894267
openSNPrs104894267
23andMers104894267
SNPshotrs104894267
SNPdbers104894267
MSV3drs104894267
GWAS Ctlgrs104894267
Max Magnitude5.8
OMIM131100
Desc
Variant0016
Relatedalso
ClinVar
Risk rs104894267(T;T)
Alt rs104894267(T;T)
Reference Rs104894267(C;C)
Significance Pathogenic
Disease Multiple endocrine neoplasia Hereditary cancer-predisposing syndrome not provided
Variation info
Gene MAP4K2 MEN1
CLNDBN Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome not provided
Reversed 1
HGVS NC_000011.9:g.64572261G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018172.2, RCV000129526.1, RCV000182421.3,