Have questions? Visit https://www.reddit.com/r/SNPedia

rs121434234

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434234(A;A)
Make rs121434234(A;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position8110211
GeneALOXE3
is asnp
is mentioned by
dbSNPrs121434234
ebirs121434234
HLIrs121434234
Exacrs121434234
Varsomers121434234
Maprs121434234
PheGenIrs121434234
hapmaprs121434234
1000 genomesrs121434234
hgdprs121434234
ensemblrs121434234
gopubmedrs121434234
geneviewrs121434234
scholarrs121434234
googlers121434234
pharmgkbrs121434234
gwascentralrs121434234
openSNPrs121434234
23andMers121434234
23andMe allrs121434234
SNP Nexus

SNPshotrs121434234
SNPdbers121434234
MSV3drs121434234
GWAS Ctlgrs121434234
Max Magnitude0
OMIM607206
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121434234(A;A)
Alt rs121434234(A;A)
Reference rs121434234(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.8013529G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003578.2,