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rs2977838

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs2977838(C;T)
Make rs2977838(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position144415027
GeneSLC39A4
is asnp
is mentioned by
dbSNPrs2977838
ebirs2977838
HLIrs2977838
Exacrs2977838
Varsomers2977838
Maprs2977838
PheGenIrs2977838
hapmaprs2977838
1000 genomesrs2977838
hgdprs2977838
ensemblrs2977838
gopubmedrs2977838
geneviewrs2977838
scholarrs2977838
googlers2977838
pharmgkbrs2977838
gwascentralrs2977838
openSNPrs2977838
23andMers2977838
23andMe allrs2977838
SNP Nexus

SNPshotrs2977838
SNPdbers2977838
MSV3drs2977838
GWAS Ctlgrs2977838
GMAF0.03535
Max Magnitude0
? (C;C) (C;T) (T;T) 28


Venter snp
Source plos
Gene SLC39A4
allele G
frequency 0.938
sift TOLERATED
HuRef 1103652472439
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
Distance917


GET Evidence
SLC39A4-W251R
aa_change Trp251Arg
aa_change_short W251R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.967274
summary