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rs121434232

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434232(G;T)
Make rs121434232(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position8109238
GeneALOXE3
is asnp
is mentioned by
dbSNPrs121434232
ebirs121434232
HLIrs121434232
Exacrs121434232
Varsomers121434232
Maprs121434232
PheGenIrs121434232
hapmaprs121434232
1000 genomesrs121434232
hgdprs121434232
ensemblrs121434232
gopubmedrs121434232
geneviewrs121434232
scholarrs121434232
googlers121434232
pharmgkbrs121434232
gwascentralrs121434232
openSNPrs121434232
23andMers121434232
23andMe allrs121434232
SNP Nexus

SNPshotrs121434232
SNPdbers121434232
MSV3drs121434232
GWAS Ctlgrs121434232
Max Magnitude0
OMIM607206
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434232(T;T)
Alt rs121434232(T;T)
Reference rs121434232(G;G)
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.8012556C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000003576.2,