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

rs199545653

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs199545653(C;T)
Make rs199545653(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position8075670
GeneALOX12B
is asnp
is mentioned by
dbSNPrs199545653
ebirs199545653
HLIrs199545653
Exacrs199545653
Varsomers199545653
Maprs199545653
PheGenIrs199545653
hapmaprs199545653
1000 genomesrs199545653
hgdprs199545653
ensemblrs199545653
gopubmedrs199545653
geneviewrs199545653
scholarrs199545653
googlers199545653
pharmgkbrs199545653
gwascentralrs199545653
openSNPrs199545653
23andMers199545653
23andMe allrs199545653
SNP Nexus

SNPshotrs199545653
SNPdbers199545653
MSV3drs199545653
GWAS Ctlgrs199545653
Max Magnitude0
ClinVar
Risk rs199545653(T;T)
Alt rs199545653(T;T)
Reference rs199545653(C;C)
Significance Probable-Pathogenic
Disease Autosomal recessive congenital ichthyosis 2
Variation info
Gene ALOX12B
CLNDBN Autosomal recessive congenital ichthyosis 2
Reversed 0
HGVS NC_000017.10:g.7978988C>T
CLNSRC
CLNACC RCV000193750.1,