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rs397514531

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514531(C;T)
Make rs397514531(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position8077058
GeneALOX12B
is asnp
is mentioned by
dbSNPrs397514531
ebirs397514531
HLIrs397514531
Exacrs397514531
Varsomers397514531
Maprs397514531
PheGenIrs397514531
hapmaprs397514531
1000 genomesrs397514531
hgdprs397514531
ensemblrs397514531
gopubmedrs397514531
geneviewrs397514531
scholarrs397514531
googlers397514531
pharmgkbrs397514531
gwascentralrs397514531
openSNPrs397514531
23andMers397514531
23andMe allrs397514531
SNP Nexus

SNPshotrs397514531
SNPdbers397514531
MSV3drs397514531
GWAS Ctlgrs397514531
Max Magnitude0
ClinVar
Risk rs397514531(T;T)
Alt rs397514531(T;T)
Reference rs397514531(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.7980376G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000032741.3,