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rs137853023

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137853023(C;C)
Make rs137853023(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position8076742
GeneALOX12B
is asnp
is mentioned by
dbSNPrs137853023
ebirs137853023
HLIrs137853023
Exacrs137853023
Varsomers137853023
Maprs137853023
PheGenIrs137853023
hapmaprs137853023
1000 genomesrs137853023
hgdprs137853023
ensemblrs137853023
gopubmedrs137853023
geneviewrs137853023
scholarrs137853023
googlers137853023
pharmgkbrs137853023
gwascentralrs137853023
openSNPrs137853023
23andMers137853023
23andMe allrs137853023
SNP Nexus

SNPshotrs137853023
SNPdbers137853023
MSV3drs137853023
GWAS Ctlgrs137853023
Max Magnitude0
OMIM603741
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137853023(C;C)
Alt rs137853023(C;C)
Reference rs137853023(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.7980060A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000006456.2,