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rs121908095

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908095(C;T)
Make rs121908095(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position40272009
GeneZMPSTE24
is asnp
is mentioned by
dbSNPrs121908095
ebirs121908095
HLIrs121908095
Exacrs121908095
Varsomers121908095
Maprs121908095
PheGenIrs121908095
hapmaprs121908095
1000 genomesrs121908095
hgdprs121908095
ensemblrs121908095
gopubmedrs121908095
geneviewrs121908095
scholarrs121908095
googlers121908095
pharmgkbrs121908095
gwascentralrs121908095
openSNPrs121908095
23andMers121908095
23andMe allrs121908095
SNP Nexus

SNPshotrs121908095
SNPdbers121908095
MSV3drs121908095
GWAS Ctlgrs121908095
Max Magnitude0
OMIM606480
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121908095(G,T;G,T)
Alt rs121908095(G,T;G,T)
Reference rs121908095(C;C)
Significance Pathogenic
Disease Mandibuloacral dysplasia with type B lipodystrophy not provided
Variation info
Gene ZMPSTE24
CLNDBN Mandibuloacral dysplasia with type B lipodystrophy not provided
Reversed 0
HGVS NC_000001.10:g.40737681C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004496.4, RCV000128756.1,


[PMID 18435794OA-icon.png] Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings.


[PMID 20814950OA-icon.png] Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24.