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rs397514529

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397514529(A;A)
Make rs397514529(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position8077085
GeneALOX12B
is asnp
is mentioned by
dbSNPrs397514529
ebirs397514529
HLIrs397514529
Exacrs397514529
Varsomers397514529
Maprs397514529
PheGenIrs397514529
hapmaprs397514529
1000 genomesrs397514529
hgdprs397514529
ensemblrs397514529
gopubmedrs397514529
geneviewrs397514529
scholarrs397514529
googlers397514529
pharmgkbrs397514529
gwascentralrs397514529
openSNPrs397514529
23andMers397514529
23andMe allrs397514529
SNP Nexus

SNPshotrs397514529
SNPdbers397514529
MSV3drs397514529
GWAS Ctlgrs397514529
Max Magnitude0
ClinVar
Risk rs397514529(A;A)
Alt rs397514529(A;A)
Reference rs397514529(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.7980403C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000032739.2,