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rs10742772

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs10742772(C;C)
Make rs10742772(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position45915716
GenePEX16
is asnp
is mentioned by
dbSNPrs10742772
ebirs10742772
HLIrs10742772
Exacrs10742772
Varsomers10742772
Maprs10742772
PheGenIrs10742772
hapmaprs10742772
1000 genomesrs10742772
hgdprs10742772
ensemblrs10742772
gopubmedrs10742772
geneviewrs10742772
scholarrs10742772
googlers10742772
pharmgkbrs10742772
gwascentralrs10742772
openSNPrs10742772
23andMers10742772
23andMe allrs10742772
SNP Nexus

SNPshotrs10742772
SNPdbers10742772
MSV3drs10742772
GWAS Ctlgrs10742772
Max Magnitude0
? (C;C) (C;T) (T;T) 28
Venter snp
Source plos
Gene PEX16
allele T
frequency 1
sift TOLERATED
HuRef 1103649676929
Disease Association Defects in PEX16 are a cause of peroxisome biogenesis disorder complementation group D (CGD) (MIM:603360); also known as Zellweger syndrome complementation group 9 (CG9).



GET Evidence
PEX16-V116I
aa_change Val116Ile
aa_change_short V116I
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 1
summary