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rs267608255

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome6
Position136845605
GenePEX7
is asnp
is mentioned by
dbSNPrs267608255
ebirs267608255
HLIrs267608255
Exacrs267608255
Varsomers267608255
Maprs267608255
PheGenIrs267608255
hapmaprs267608255
1000 genomesrs267608255
hgdprs267608255
ensemblrs267608255
gopubmedrs267608255
geneviewrs267608255
scholarrs267608255
googlers267608255
pharmgkbrs267608255
gwascentralrs267608255
openSNPrs267608255
23andMers267608255
23andMe allrs267608255
SNP Nexus

SNPshotrs267608255
SNPdbers267608255
MSV3drs267608255
GWAS Ctlgrs267608255
Max Magnitude0

PEX7 IVS3, A-G, -10

Rhizomelic chondrodysplasia punctata type 1

This SNP is called i5006215 by 23andMe.


ClinVar
Risk rs267608255(G;G)
Alt rs267608255(G;G)
Reference rs267608255(A;A)
Significance Pathogenic
Disease Peroxisome biogenesis disorder 9B Phytanic acid storage disease
Variation info
Gene PEX7
CLNDBN Peroxisome biogenesis disorder 9B Phytanic acid storage disease
Reversed 0
HGVS NC_000006.11:g.137166743A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000008229.3, RCV000032116.1,