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rs28931612

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in complete genomics
Make rs28931612(A;A)
Make rs28931612(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position64810034
GeneMEN1
is asnp
is mentioned by
dbSNPrs28931612
ebirs28931612
HLIrs28931612
Exacrs28931612
Varsomers28931612
Maprs28931612
PheGenIrs28931612
hapmaprs28931612
1000 genomesrs28931612
hgdprs28931612
ensemblrs28931612
gopubmedrs28931612
geneviewrs28931612
scholarrs28931612
googlers28931612
pharmgkbrs28931612
gwascentralrs28931612
openSNPrs28931612
23andMers28931612
23andMe allrs28931612
SNP Nexus

SNPshotrs28931612
SNPdbers28931612
MSV3drs28931612
GWAS Ctlgrs28931612
Max Magnitude0
NOTE: the OMIM entry cited below refers to a somatic mutation, not a germline SNP
OMIM131100
DescPARATHYROID ADENOMA, SOMATIC
Variant0013
Relatedalso


ClinVar
Risk rs28931612(A,T;A,T)
Alt rs28931612(A,T;A,T)
Reference rs28931612(G;G)
Significance Pathogenic
Disease not provided Parathyroid adenoma
Variation info
Gene MEN1
CLNDBN not provided Parathyroid adenoma, somatic
Reversed 1
HGVS NC_000011.9:g.64577506C>A; NC_000011.9:g.64577506C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000182445.1, RCV000018169.4,