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rs2280838

From SNPedia

Orientationminus
Stabilizedminus
Make rs2280838(A;A)
Make rs2280838(A;G)
Make rs2280838(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position144416618
GeneSLC39A4
is asnp
is mentioned by
dbSNPrs2280838
ebirs2280838
HLIrs2280838
Exacrs2280838
Varsomers2280838
Maprs2280838
PheGenIrs2280838
hapmaprs2280838
1000 genomesrs2280838
hgdprs2280838
ensemblrs2280838
gopubmedrs2280838
geneviewrs2280838
scholarrs2280838
googlers2280838
pharmgkbrs2280838
gwascentralrs2280838
openSNPrs2280838
23andMers2280838
23andMe allrs2280838
SNP Nexus

SNPshotrs2280838
SNPdbers2280838
MSV3drs2280838
GWAS Ctlgrs2280838
GMAF0.4803
Max Magnitude
? (A;A) (A;G) (G;G) 28


Venter snp
Source plos
Gene SLC39A4
allele T
frequency 0.5
sift TOLERATED
HuRef 1103652472442
Disease Association Defects in SLC39A4 are the cause of acrodermatitis enteropathica zinc-deficiency type (AEZ) (MIM:201100). AEZ is a rare autosomal recessive disease caused by the inability to absorb sufficient zinc. The clinicals features are growth retardation, immune-system dysfunction, alopecia, severe dermatitis, diarrhea and occasionally mental disorders.



Neighborrs17855765
Distance674


GET Evidence
SLC39A4-A58T
aa_change Ala58Thr
aa_change_short A58T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.522893
summary