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rs387906349

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906349(-;-)
Make rs387906349(-;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position8076320
GeneALOX12B
is asnp
is mentioned by
dbSNPrs387906349
ebirs387906349
HLIrs387906349
Exacrs387906349
Varsomers387906349
Maprs387906349
PheGenIrs387906349
hapmaprs387906349
1000 genomesrs387906349
hgdprs387906349
ensemblrs387906349
gopubmedrs387906349
geneviewrs387906349
scholarrs387906349
googlers387906349
pharmgkbrs387906349
gwascentralrs387906349
openSNPrs387906349
23andMers387906349
23andMe allrs387906349
SNP Nexus

SNPshotrs387906349
SNPdbers387906349
MSV3drs387906349
GWAS Ctlgrs387906349
Max Magnitude0
ClinVar
Risk rs387906349(;)
Alt rs387906349(;)
Reference rs387906349(T;T)
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.7979638delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000006455.2,