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rs10087163

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(G;G) 0 common on affy axiom data
Make rs10087163(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position76983629
GenePEX2
is asnp
is mentioned by
dbSNPrs10087163
ebirs10087163
HLIrs10087163
Exacrs10087163
Varsomers10087163
Maprs10087163
PheGenIrs10087163
hapmaprs10087163
1000 genomesrs10087163
hgdprs10087163
ensemblrs10087163
gopubmedrs10087163
geneviewrs10087163
scholarrs10087163
googlers10087163
pharmgkbrs10087163
gwascentralrs10087163
openSNPrs10087163
23andMers10087163
23andMe allrs10087163
SNP Nexus

SNPshotrs10087163
SNPdbers10087163
MSV3drs10087163
GWAS Ctlgrs10087163
GMAF0.008264
Max Magnitude0
? (A;A) (A;G) (G;G) 28
Venter snp
Source plos
Gene PXMP3
allele G
frequency 0.992
sift TOLERATED
HuRef 1103652358324
Disease Association Defects in PXMP3 are the cause of infantile Refsum disease (IRD) (MIM:266510). IRD is a progessively less severe form of the PBDs. Features include early onset, mental retardation, minor facial dysmorphism, retinitis pigmentosa, sensorineural hearing deficit, hepatomegaly, osteoporosis, failure to thrive, and hypocholesterolemia. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid.



GET Evidence
PEX2-C184R
aa_change Cys184Arg
aa_change_short C184R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.988753
summary



ClinVar
Risk rs10087163(G;G)
Alt rs10087163(G;G)
Reference rs10087163(A;A)
Significance Non-pathogenic
Disease not specified
Variation info
Gene PEX2
CLNDBN not specified
Reversed 0
HGVS NC_000008.10:g.77895865A>G
CLNSRC
CLNACC RCV000153682.2,