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rs397514527

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397514527(C;T)
Make rs397514527(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position8076725
GeneALOX12B
is asnp
is mentioned by
dbSNPrs397514527
ebirs397514527
HLIrs397514527
Exacrs397514527
Varsomers397514527
Maprs397514527
PheGenIrs397514527
hapmaprs397514527
1000 genomesrs397514527
hgdprs397514527
ensemblrs397514527
gopubmedrs397514527
geneviewrs397514527
scholarrs397514527
googlers397514527
pharmgkbrs397514527
gwascentralrs397514527
openSNPrs397514527
23andMers397514527
23andMe allrs397514527
SNP Nexus

SNPshotrs397514527
SNPdbers397514527
MSV3drs397514527
GWAS Ctlgrs397514527
Max Magnitude0
ClinVar
Risk rs397514527(T;T)
Alt rs397514527(T;T)
Reference rs397514527(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.7980043G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000032737.2,