Have questions? Visit https://www.reddit.com/r/SNPedia

rs199766569

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs199766569(C;C)
Make rs199766569(C;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position8075687
GeneALOX12B
is asnp
is mentioned by
dbSNPrs199766569
dbSNP (old)rs199766569
ClinGenrs199766569
ebirs199766569
HLIrs199766569
Exacrs199766569
Gnomadrs199766569
Varsomers199766569
Maprs199766569
PheGenIrs199766569
Biobankrs199766569
1000 genomesrs199766569
hgdprs199766569
ensemblrs199766569
gopubmedrs199766569
geneviewrs199766569
scholarrs199766569
googlers199766569
pharmgkbrs199766569
gwascentralrs199766569
openSNPrs199766569
23andMers199766569
23andMe allrs199766569
SNP Nexus

SNPshotrs199766569
SNPdbers199766569
MSV3drs199766569
GWAS Ctlgrs199766569
Max Magnitude0
ClinVar
Risk rs199766569(C;C)
Alt rs199766569(C;C)
Reference Rs199766569(T;T)
Significance Pathogenic
Disease Autosomal recessive congenital ichthyosis 2 Congenital ichthyosiform erythroderma not provided Ichthyosis
Variation info
Gene ALOX12B
CLNDBN Autosomal recessive congenital ichthyosis 2 Congenital ichthyosiform erythroderma not provided Ichthyosis
Reversed 0
HGVS NC_000017.10:g.7979005T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000032744.4, RCV000341391.1, RCV000413764.1, RCV000414880.1,