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rs397514530

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs397514530(A;A)
Make rs397514530(A;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position8081130
GeneALOX12B
is asnp
is mentioned by
dbSNPrs397514530
ebirs397514530
HLIrs397514530
Exacrs397514530
Varsomers397514530
Maprs397514530
PheGenIrs397514530
hapmaprs397514530
1000 genomesrs397514530
hgdprs397514530
ensemblrs397514530
gopubmedrs397514530
geneviewrs397514530
scholarrs397514530
googlers397514530
pharmgkbrs397514530
gwascentralrs397514530
openSNPrs397514530
23andMers397514530
23andMe allrs397514530
SNP Nexus

SNPshotrs397514530
SNPdbers397514530
MSV3drs397514530
GWAS Ctlgrs397514530
Max Magnitude0
ClinVar
Risk rs397514530(A;A)
Alt rs397514530(A;A)
Reference rs397514530(T;T)
Significance Pathogenic
Disease Autosomal recessive congenital ichthyosis 2
Variation info
Gene ALOX12B LOC101928179
CLNDBN Autosomal recessive congenital ichthyosis 2
Reversed 1
HGVS NC_000017.10:g.7984448A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032740.3,