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rs1129187

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;T) 0
Make rs1129187(A;A)
Make rs1129187(A;C)
ReferenceGRCh38 38.1/141
Chromosome6
Position42964462
GenePEX6
is asnp
is mentioned by
dbSNPrs1129187
ebirs1129187
HLIrs1129187
Exacrs1129187
Varsomers1129187
Maprs1129187
PheGenIrs1129187
hapmaprs1129187
1000 genomesrs1129187
hgdprs1129187
ensemblrs1129187
gopubmedrs1129187
geneviewrs1129187
scholarrs1129187
googlers1129187
pharmgkbrs1129187
gwascentralrs1129187
openSNPrs1129187
23andMers1129187
23andMe allrs1129187
SNP Nexus

SNPshotrs1129187
SNPdbers1129187
MSV3drs1129187
GWAS Ctlgrs1129187
GMAF0.3287
Max Magnitude0
? (A;A) (A;C) (C;C) 28


Venter snp
Source plos
Gene PEX6
allele T
frequency
sift TOLERATED
HuRef 1103652853148
Disease Association Defects in PEX6 are a cause of Zellweger syndrome (ZWS) (MIM:214100). ZWS is the most severe peroxisome biogenesis disorder (PBD). PBDs are a group of lethal inherited disorders, clinically classified as Zellweger syndrome, neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS is characterized by the absence of peroxisomes and by multiple metabolic defects. Patients with ZWS have severe neurological abnormalities, dysmorphic facial features, hepatomegaly, and multiple renal cysts; most die within 6 months of birth. NALD and IRD are similar to ZWS, but progressively milder, with some IRD patients surviving beyond the third decade of life. Classical RCDP, distinct from the ZWS spectrum, is associated with a characteristic facial appearance, rhizomelia, ichthyosis, and severe neurological impairment.



ClinVar
Risk rs1129187(A,G;A,G)
Alt rs1129187(A,G;A,G)
Reference rs1129187(C;C)
Significance Non-pathogenic
Disease not specified
Variation info
Gene PEX6
CLNDBN not specified
Reversed 1
HGVS NC_000006.11:g.42932200G>T
CLNSRC ClinVar Emory University
CLNACC RCV000078574.4,



GET Evidence
PEX6-P939Q
aa_change Pro939Gln
aa_change_short P939Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.430284
summary