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rs121434292

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in complete genomics
(C;T) 3 Carrier of an acrodermatitis enteropathica mutation
Make rs121434292(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position144416001
GeneSLC39A4
is asnp
is mentioned by
dbSNPrs121434292
dbSNP (classic)rs121434292
ClinGenrs121434292
ebirs121434292
HLIrs121434292
Exacrs121434292
Gnomadrs121434292
Varsomers121434292
LitVarrs121434292
Maprs121434292
PheGenIrs121434292
Biobankrs121434292
1000 genomesrs121434292
hgdprs121434292
ensemblrs121434292
geneviewrs121434292
scholarrs121434292
googlers121434292
pharmgkbrs121434292
gwascentralrs121434292
openSNPrs121434292
23andMers121434292
SNPshotrs121434292
SNPdbers121434292
MSV3drs121434292
GWAS Ctlgrs121434292
Max Magnitude3

aka c.283C>T (p.Arg95Cys)

Note that dbSNP reports the existence of an alternate alternate allele, c.283C>A (p.Arg95Ser), but the pathogenicity is not reported.

OMIM607059
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121434292(A;A) rs121434292(T;T)
Alt rs121434292(A;A) rs121434292(T;T)
Reference Rs121434292(C;C)
Significance Pathogenic
Disease Hereditary acrodermatitis enteropathica
Variation info
Gene SLC39A4
CLNDBN Hereditary acrodermatitis enteropathica
Reversed 1
HGVS NC_000008.10:g.145641385G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003722.3,