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

rs121434235

From SNPedia

Orientationminus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121434235(A;A)
Make rs121434235(A;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position8112168
GeneALOXE3
is asnp
is mentioned by
dbSNPrs121434235
ebirs121434235
HLIrs121434235
Exacrs121434235
Varsomers121434235
Maprs121434235
PheGenIrs121434235
hapmaprs121434235
1000 genomesrs121434235
hgdprs121434235
ensemblrs121434235
gopubmedrs121434235
geneviewrs121434235
scholarrs121434235
googlers121434235
pharmgkbrs121434235
gwascentralrs121434235
openSNPrs121434235
23andMers121434235
23andMe allrs121434235
SNP Nexus

SNPshotrs121434235
SNPdbers121434235
MSV3drs121434235
GWAS Ctlgrs121434235
GMAF0.001377
Max Magnitude0
OMIM607206
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121434235(A;A)
Alt rs121434235(A;A)
Reference rs121434235(T;T)
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.8015486A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000003579.3,