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rs2959656

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs2959656(A;G)
Make rs2959656(G;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position64804546
GeneMAP4K2, MEN1
is asnp
is mentioned by
dbSNPrs2959656
ebirs2959656
HLIrs2959656
Exacrs2959656
Varsomers2959656
Maprs2959656
PheGenIrs2959656
hapmaprs2959656
1000 genomesrs2959656
hgdprs2959656
ensemblrs2959656
gopubmedrs2959656
geneviewrs2959656
scholarrs2959656
googlers2959656
pharmgkbrs2959656
gwascentralrs2959656
openSNPrs2959656
23andMers2959656
23andMe allrs2959656
SNP Nexus

SNPshotrs2959656
SNPdbers2959656
MSV3drs2959656
GWAS Ctlgrs2959656
GMAF0.1543
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene MEN1
allele C
frequency
sift TOLERATED
HuRef 1103649707660
Disease Association Defects in MEN1 are the cause of familial isolated hyperparathyroidism (FIHP) (MIM:145000); also designated HRPT1. FIHP is an autosomal dominant disorder characterized by hypercalcemia, elevated parathyroid hormone (PTH) levels, and uniglandular or multiglandular parathyroid tumors.



GET Evidence
MEN1-T546A
aa_change Thr546Ala
aa_change_short T546A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.907697
summary



ClinVar
Risk rs2959656(G;G)
Alt rs2959656(G;G)
Reference rs2959656(A;A)
Significance Non-pathogenic
Disease not provided not specified Multiple endocrine neoplasia Primary hyperparathyroidism
Variation info
Gene MAP4K2 MEN1
CLNDBN not provided not specified Multiple endocrine neoplasia, type 1 Primary hyperparathyroidism
Reversed 1
HGVS NC_000011.9:g.64572018T\x3d; NC_000011.9:g.64572018T>C
CLNSRC HGMD
CLNACC RCV000034785.3, RCV000082334.5, RCV000204881.1, RCV000210359.1, RCV000121334.3,