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rs397514526

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514526(C;T)
Make rs397514526(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position8086028
GeneALOX12B
is asnp
is mentioned by
dbSNPrs397514526
ebirs397514526
HLIrs397514526
Exacrs397514526
Varsomers397514526
Maprs397514526
PheGenIrs397514526
hapmaprs397514526
1000 genomesrs397514526
hgdprs397514526
ensemblrs397514526
gopubmedrs397514526
geneviewrs397514526
scholarrs397514526
googlers397514526
pharmgkbrs397514526
gwascentralrs397514526
openSNPrs397514526
23andMers397514526
23andMe allrs397514526
SNP Nexus

SNPshotrs397514526
SNPdbers397514526
MSV3drs397514526
GWAS Ctlgrs397514526
Max Magnitude0
ClinVar
Risk rs397514526(T;T)
Alt rs397514526(T;T)
Reference rs397514526(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.7989346G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000032736.2,