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rs104894266

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 5.8 Multiple Endocrine Neoplasia Type 1
Make rs104894266(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position64807557
GeneMEN1
is asnp
is mentioned by
dbSNPrs104894266
dbSNP (classic)rs104894266
ClinGenrs104894266
ebirs104894266
HLIrs104894266
Exacrs104894266
Gnomadrs104894266
Varsomers104894266
LitVarrs104894266
Maprs104894266
PheGenIrs104894266
Biobankrs104894266
1000 genomesrs104894266
hgdprs104894266
ensemblrs104894266
geneviewrs104894266
scholarrs104894266
googlers104894266
pharmgkbrs104894266
gwascentralrs104894266
openSNPrs104894266
23andMers104894266
SNPshotrs104894266
SNPdbers104894266
MSV3drs104894266
GWAS Ctlgrs104894266
Max Magnitude5.8
OMIM131100
Desc
Variant0014
Relatedalso
ClinVar
Risk rs104894266(T;T)
Alt rs104894266(T;T)
Reference Rs104894266(C;C)
Significance Pathogenic
Disease Multiple endocrine neoplasia Hereditary cancer-predisposing syndrome
Variation info
Gene MEN1
CLNDBN Multiple endocrine neoplasia, type 1 Hereditary cancer-predisposing syndrome
Reversed 1
HGVS NC_000011.9:g.64575029G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018170.2, RCV000491298.1,