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rs199545653

From SNPedia

Orientationplus
Stabilizedplus
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
dbSNP (classic)rs199545653
ClinGenrs199545653
ebirs199545653
HLIrs199545653
Exacrs199545653
Gnomadrs199545653
Varsomers199545653
LitVarrs199545653
Maprs199545653
PheGenIrs199545653
Biobankrs199545653
1000 genomesrs199545653
hgdprs199545653
ensemblrs199545653
geneviewrs199545653
scholarrs199545653
googlers199545653
pharmgkbrs199545653
gwascentralrs199545653
openSNPrs199545653
23andMers199545653
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 not provided
Variation info
Gene ALOX12B
CLNDBN Autosomal recessive congenital ichthyosis 2 not provided
Reversed 0
HGVS NC_000017.10:g.7978988C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000193750.1, RCV000421593.1,