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rs121909151

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909151(C;T)
Make rs121909151(T;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position136869909
GenePEX7
is asnp
is mentioned by
dbSNPrs121909151
ebirs121909151
HLIrs121909151
Exacrs121909151
Varsomers121909151
Maprs121909151
PheGenIrs121909151
hapmaprs121909151
1000 genomesrs121909151
hgdprs121909151
ensemblrs121909151
gopubmedrs121909151
geneviewrs121909151
scholarrs121909151
googlers121909151
pharmgkbrs121909151
gwascentralrs121909151
openSNPrs121909151
23andMers121909151
23andMe allrs121909151
SNP Nexus

SNPshotrs121909151
SNPdbers121909151
MSV3drs121909151
GWAS Ctlgrs121909151
Max Magnitude0
OMIM601757
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121909151(T;T)
Alt rs121909151(T;T)
Reference Rs121909151(C;C)
Significance Pathogenic
Disease Rhizomelic chondrodysplasia punctata type 1 Peroxisome biogenesis disorder 9B
Variation info
Gene PEX7
CLNDBN Rhizomelic chondrodysplasia punctata type 1 Peroxisome biogenesis disorder 9B
Reversed 0
HGVS NC_000006.11:g.137191047C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008223.5, RCV000032925.4,