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rs397514528

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514528(G;T)
Make rs397514528(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position8072841
GeneALOX12B
is asnp
is mentioned by
dbSNPrs397514528
ebirs397514528
HLIrs397514528
Exacrs397514528
Varsomers397514528
Maprs397514528
PheGenIrs397514528
hapmaprs397514528
1000 genomesrs397514528
hgdprs397514528
ensemblrs397514528
gopubmedrs397514528
geneviewrs397514528
scholarrs397514528
googlers397514528
pharmgkbrs397514528
gwascentralrs397514528
openSNPrs397514528
23andMers397514528
23andMe allrs397514528
SNP Nexus

SNPshotrs397514528
SNPdbers397514528
MSV3drs397514528
GWAS Ctlgrs397514528
Max Magnitude0
ClinVar
Risk rs397514528(A,T;A,T)
Alt rs397514528(A,T;A,T)
Reference rs397514528(G;G)
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.7976159C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000032738.2,