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rs121909152

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909152(A;A)
Make rs121909152(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position136869905
GenePEX7
is asnp
is mentioned by
dbSNPrs121909152
ebirs121909152
HLIrs121909152
Exacrs121909152
Varsomers121909152
Maprs121909152
PheGenIrs121909152
hapmaprs121909152
1000 genomesrs121909152
hgdprs121909152
ensemblrs121909152
gopubmedrs121909152
geneviewrs121909152
scholarrs121909152
googlers121909152
pharmgkbrs121909152
gwascentralrs121909152
openSNPrs121909152
23andMers121909152
23andMe allrs121909152
SNP Nexus

SNPshotrs121909152
SNPdbers121909152
MSV3drs121909152
GWAS Ctlgrs121909152
Max Magnitude0
OMIM601757
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121909152(A;A)
Alt rs121909152(A;A)
Reference rs121909152(G;G)
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.137191043G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008224.5,