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rs1057523837

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 Carrier of an acrodermatitis enteropathica mutation
Make rs1057523837(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome8
Position144415401
GeneSLC39A4
is asnp
is mentioned by
dbSNPrs1057523837
dbSNP (old)rs1057523837
ClinGenrs1057523837
ebirs1057523837
HLIrs1057523837
Exacrs1057523837
Gnomadrs1057523837
Varsomers1057523837
LitVarrs1057523837
Maprs1057523837
PheGenIrs1057523837
Biobankrs1057523837
1000 genomesrs1057523837
hgdprs1057523837
ensemblrs1057523837
gopubmedrs1057523837
geneviewrs1057523837
scholarrs1057523837
googlers1057523837
pharmgkbrs1057523837
gwascentralrs1057523837
openSNPrs1057523837
23andMers1057523837
23andMe allrs1057523837
SNPshotrs1057523837
SNPdbers1057523837
MSV3drs1057523837
GWAS Ctlgrs1057523837
Max Magnitude3

aka c.493C>T (p.Gln165Ter)

Reported by one ClinVar submitter as likely to be pathogenic, presumably for acrodermatitis enteropathica

ClinVar
Risk rs1057523837(T;T)
Alt rs1057523837(T;T)
Reference Rs1057523837(C;C)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene SLC39A4
CLNDBN not provided
Reversed 1
HGVS NC_000008.10:g.145640785G>A
CLNSRC
CLNACC RCV000426928.1,