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rs397514533

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs397514533(A;T)
Make rs397514533(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position8086169
GeneALOX12B, MIR4314
is asnp
is mentioned by
dbSNPrs397514533
ebirs397514533
HLIrs397514533
Exacrs397514533
Varsomers397514533
Maprs397514533
PheGenIrs397514533
hapmaprs397514533
1000 genomesrs397514533
hgdprs397514533
ensemblrs397514533
gopubmedrs397514533
geneviewrs397514533
scholarrs397514533
googlers397514533
pharmgkbrs397514533
gwascentralrs397514533
openSNPrs397514533
23andMers397514533
23andMe allrs397514533
SNP Nexus

SNPshotrs397514533
SNPdbers397514533
MSV3drs397514533
GWAS Ctlgrs397514533
Max Magnitude0
ClinVar
Risk rs397514533(T;T)
Alt rs397514533(T;T)
Reference rs397514533(A;A)
Significance Pathogenic
Disease Autosomal recessive congenital ichthyosis 2
Variation info
Gene MIR4314 ALOX12B
CLNDBN Autosomal recessive congenital ichthyosis 2
Reversed 1
HGVS NC_000017.10:g.7989487T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000032745.4,