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rs121434287

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
(C;T) 3 Carrier of an acrodermatitis enteropathica mutation
Make rs121434287(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position144415295
GeneSLC39A4
is asnp
is mentioned by
dbSNPrs121434287
dbSNP (classic)rs121434287
ClinGenrs121434287
ebirs121434287
HLIrs121434287
Exacrs121434287
Gnomadrs121434287
Varsomers121434287
LitVarrs121434287
Maprs121434287
PheGenIrs121434287
Biobankrs121434287
1000 genomesrs121434287
hgdprs121434287
ensemblrs121434287
geneviewrs121434287
scholarrs121434287
googlers121434287
pharmgkbrs121434287
gwascentralrs121434287
openSNPrs121434287
23andMers121434287
SNPshotrs121434287
SNPdbers121434287
MSV3drs121434287
GWAS Ctlgrs121434287
Max Magnitude3

aka c.599C>T (p.Pro200Leu)

OMIM607059
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121434287(T;T)
Alt rs121434287(T;T)
Reference Rs121434287(C;C)
Significance Pathogenic
Disease Hereditary acrodermatitis enteropathica
Variation info
Gene SLC39A4
CLNDBN Hereditary acrodermatitis enteropathica
Reversed 1
HGVS NC_000008.10:g.145640679G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003715.3,