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rs121909154

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome6
Position136845620
GenePEX7
is asnp
is mentioned by
dbSNPrs121909154
ebirs121909154
HLIrs121909154
Exacrs121909154
Varsomers121909154
Maprs121909154
PheGenIrs121909154
hapmaprs121909154
1000 genomesrs121909154
hgdprs121909154
ensemblrs121909154
gopubmedrs121909154
geneviewrs121909154
scholarrs121909154
googlers121909154
pharmgkbrs121909154
gwascentralrs121909154
openSNPrs121909154
23andMers121909154
23andMe allrs121909154
SNP Nexus

SNPshotrs121909154
SNPdbers121909154
MSV3drs121909154
GWAS Ctlgrs121909154
Max Magnitude0

PEX7 Tyr115Ter or Y115X

Rhizomelic chondrodysplasia punctata type 1

OMIM601757
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121909154(G;G)
Alt rs121909154(G;G)
Reference rs121909154(T;T)
Significance Pathogenic
Disease Peroxisome biogenesis disorder 9B
Variation info
Gene PEX7
CLNDBN Peroxisome biogenesis disorder 9B
Reversed 0
HGVS NC_000006.11:g.137166758T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008228.2,


[PMID 12325024] Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype.