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rs121434233

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434233(C;T)
Make rs121434233(T;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position8112177
GeneALOXE3
is asnp
is mentioned by
dbSNPrs121434233
ebirs121434233
HLIrs121434233
Exacrs121434233
Varsomers121434233
Maprs121434233
PheGenIrs121434233
hapmaprs121434233
1000 genomesrs121434233
hgdprs121434233
ensemblrs121434233
gopubmedrs121434233
geneviewrs121434233
scholarrs121434233
googlers121434233
pharmgkbrs121434233
gwascentralrs121434233
openSNPrs121434233
23andMers121434233
23andMe allrs121434233
SNP Nexus

SNPshotrs121434233
SNPdbers121434233
MSV3drs121434233
GWAS Ctlgrs121434233
Max Magnitude0
OMIM607206
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434233(T;T)
Alt rs121434233(T;T)
Reference rs121434233(C;C)
Significance Pathogenic
Disease Autosomal recessive congenital ichthyosis 3
Variation info
Gene ALOXE3
CLNDBN Autosomal recessive congenital ichthyosis 3
Reversed 1
HGVS NC_000017.10:g.8015495G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003577.2,