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rs17855765

From SNPedia

Orientationplus
Stabilizedplus
Make rs17855765(C;C)
Make rs17855765(C;T)
Make rs17855765(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position144415944
GeneSLC39A4
is asnp
is mentioned by
dbSNPrs17855765
ebirs17855765
HLIrs17855765
Exacrs17855765
Varsomers17855765
Maprs17855765
PheGenIrs17855765
hapmaprs17855765
1000 genomesrs17855765
hgdprs17855765
ensemblrs17855765
gopubmedrs17855765
geneviewrs17855765
scholarrs17855765
googlers17855765
pharmgkbrs17855765
gwascentralrs17855765
openSNPrs17855765
23andMers17855765
23andMe allrs17855765
SNP Nexus

SNPshotrs17855765
SNPdbers17855765
MSV3drs17855765
GWAS Ctlgrs17855765
GMAF0.4348
Max Magnitude
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene SLC39A4
allele T
frequency 0.467
sift
HuRef 1103652472440
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.



Neighborrs2977838
Distance917
Neighborrs2280838
Distance674


GET Evidence
SLC39A4-A114T
aa_change Ala114Thr
aa_change_short A114T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.432945
summary