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rs144259891

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs144259891(A;A)
Make rs144259891(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome17
Position35577895
GenePEX12
is asnp
is mentioned by
dbSNPrs144259891
dbSNP (old)rs144259891
ClinGenrs144259891
ebirs144259891
HLIrs144259891
Exacrs144259891
Gnomadrs144259891
Varsomers144259891
Maprs144259891
PheGenIrs144259891
Biobankrs144259891
1000 genomesrs144259891
hgdprs144259891
ensemblrs144259891
gopubmedrs144259891
geneviewrs144259891
scholarrs144259891
googlers144259891
pharmgkbrs144259891
gwascentralrs144259891
openSNPrs144259891
23andMers144259891
23andMe allrs144259891
SNPshotrs144259891
SNPdbers144259891
MSV3drs144259891
GWAS Ctlgrs144259891
Max Magnitude0
ClinVar
Risk rs144259891(A;A) rs144259891(T;T)
Alt rs144259891(A;A) rs144259891(T;T)
Reference Rs144259891(C;C)
Significance Pathogenic
Disease Infantile Refsum's disease Peroxisome biogenesis disorder 3A
Variation info
Gene PEX12
CLNDBN Infantile Refsum's disease Peroxisome biogenesis disorder 3A
Reversed 0
HGVS NC_000017.10:g.33904914C>A
CLNSRC
CLNACC RCV000410810.1, RCV000412365.1,