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rs386134254

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 5.8 Multiple Endocrine Neoplasia Type 1
Make rs386134254(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position64809693
GeneMEN1
is asnp
is mentioned by
dbSNPrs386134254
dbSNP (classic)rs386134254
ClinGenrs386134254
ebirs386134254
HLIrs386134254
Exacrs386134254
Gnomadrs386134254
Varsomers386134254
LitVarrs386134254
Maprs386134254
PheGenIrs386134254
Biobankrs386134254
1000 genomesrs386134254
hgdprs386134254
ensemblrs386134254
geneviewrs386134254
scholarrs386134254
googlers386134254
pharmgkbrs386134254
gwascentralrs386134254
openSNPrs386134254
23andMers386134254
SNPshotrs386134254
SNPdbers386134254
MSV3drs386134254
GWAS Ctlgrs386134254
Max Magnitude5.8
ClinVar
Risk rs386134254(G;G)
Alt rs386134254(G;G)
Reference Rs386134254(C;C)
Significance Probable-Pathogenic
Disease Multiple endocrine neoplasia
Variation info
Gene MEN1
CLNDBN Multiple endocrine neoplasia, type 1
Reversed 1
HGVS NC_000011.9:g.64577165G>C
CLNSRC ClinVar LabCorp
CLNACC RCV000030202.1,