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rs397514532

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514532(C;T)
Make rs397514532(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position8075607
GeneALOX12B
is asnp
is mentioned by
dbSNPrs397514532
ebirs397514532
HLIrs397514532
Exacrs397514532
Varsomers397514532
Maprs397514532
PheGenIrs397514532
hapmaprs397514532
1000 genomesrs397514532
hgdprs397514532
ensemblrs397514532
gopubmedrs397514532
geneviewrs397514532
scholarrs397514532
googlers397514532
pharmgkbrs397514532
gwascentralrs397514532
openSNPrs397514532
23andMers397514532
23andMe allrs397514532
SNP Nexus

SNPshotrs397514532
SNPdbers397514532
MSV3drs397514532
GWAS Ctlgrs397514532
Max Magnitude0
ClinVar
Risk rs397514532(T;T)
Alt rs397514532(T;T)
Reference rs397514532(C;C)
Significance Pathogenic
Disease Autosomal recessive congenital ichthyosis 2
Variation info
Gene ALOX12B
CLNDBN Autosomal recessive congenital ichthyosis 2
Reversed 1
HGVS NC_000017.10:g.7978925G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000032743.3,