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rs34154371

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs34154371(A;G)
Make rs34154371(G;G)
ReferenceGRCh38 38.1/142
Chromosome1
Position2406576
GenePEX10
is asnp
is mentioned by
dbSNPrs34154371
ebirs34154371
HLIrs34154371
Exacrs34154371
Varsomers34154371
Maprs34154371
PheGenIrs34154371
hapmaprs34154371
1000 genomesrs34154371
hgdprs34154371
ensemblrs34154371
gopubmedrs34154371
geneviewrs34154371
scholarrs34154371
googlers34154371
pharmgkbrs34154371
gwascentralrs34154371
openSNPrs34154371
23andMers34154371
23andMe allrs34154371
SNP Nexus

SNPshotrs34154371
SNPdbers34154371
MSV3drs34154371
GWAS Ctlgrs34154371
GMAF0.009642
Max Magnitude0

[PMID 15542397] The PEX Gene Screen: molecular diagnosis of peroxisome biogenesis disorders in the Zellweger syndrome spectrum.

ClinVar
Risk rs34154371(G;G)
Alt rs34154371(G;G)
Reference rs34154371(A;A)
Significance Non-pathogenic
Disease not specified
Variation info
Gene PEX10
CLNDBN not specified
Reversed 1
HGVS NC_000001.10:g.2338015T>C
CLNSRC
CLNACC RCV000179027.1,


GET Evidence
PEX10-T294A
aa_change Thr294Ala
aa_change_short T294A
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0078125
summary