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rs12941376

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common on affy axiom data
Make rs12941376(A;T)
Make rs12941376(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position35576129
GenePEX12
is asnp
is mentioned by
dbSNPrs12941376
ebirs12941376
HLIrs12941376
Exacrs12941376
Varsomers12941376
Maprs12941376
PheGenIrs12941376
hapmaprs12941376
1000 genomesrs12941376
hgdprs12941376
ensemblrs12941376
gopubmedrs12941376
geneviewrs12941376
scholarrs12941376
googlers12941376
pharmgkbrs12941376
gwascentralrs12941376
openSNPrs12941376
23andMers12941376
23andMe allrs12941376
SNP Nexus

SNPshotrs12941376
SNPdbers12941376
MSV3drs12941376
GWAS Ctlgrs12941376
GMAF0.008724
Max Magnitude0
? (A;A) (A;T) (T;T) 28
Venter snp
Source plos
Gene PEX12
allele T
frequency
sift TOLERATED
HuRef 1103645314318
Disease Association Defects in PEX12 are a cause of Zellweger syndrome (ZS) (MIM:214100); a severe peroxisome biogenesis disorder.



Neighborrs28936697
Distance226


GET Evidence
PEX12-L245I
aa_change Leu245Ile
aa_change_short L245I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.012084
summary