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rs121909153

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 carrier of a Rhizomelic chondrodysplasia punctata type 1 allele
(T;T) 7 Rhizomelic chondrodysplasia punctata type 1
ReferenceGRCh38 38.1/141
Chromosome6
Position136869950
GenePEX7
is asnp
is mentioned by
dbSNPrs121909153
ebirs121909153
HLIrs121909153
Exacrs121909153
Varsomers121909153
Maprs121909153
PheGenIrs121909153
hapmaprs121909153
1000 genomesrs121909153
hgdprs121909153
ensemblrs121909153
gopubmedrs121909153
geneviewrs121909153
scholarrs121909153
googlers121909153
pharmgkbrs121909153
gwascentralrs121909153
openSNPrs121909153
23andMers121909153
23andMe allrs121909153
SNP Nexus

SNPshotrs121909153
SNPdbers121909153
MSV3drs121909153
GWAS Ctlgrs121909153
Max Magnitude7

PEX7 Arg232Ter or R232X

Rhizomelic chondrodysplasia punctata type 1

This SNP is called i5006212 by 23andMe.

OMIM601757
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121909153(T;T)
Alt rs121909153(T;T)
Reference rs121909153(C;C)
Significance Pathogenic
Disease Rhizomelic chondrodysplasia punctata type 1
Variation info
Gene PEX7
CLNDBN Rhizomelic chondrodysplasia punctata type 1
Reversed 0
HGVS NC_000006.11:g.137191088C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000008225.4,