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rs121908094

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121908094(C;T)
Make rs121908094(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position40258392
GeneZMPSTE24
is asnp
is mentioned by
dbSNPrs121908094
ebirs121908094
HLIrs121908094
Exacrs121908094
Varsomers121908094
Maprs121908094
PheGenIrs121908094
hapmaprs121908094
1000 genomesrs121908094
hgdprs121908094
ensemblrs121908094
gopubmedrs121908094
geneviewrs121908094
scholarrs121908094
googlers121908094
pharmgkbrs121908094
gwascentralrs121908094
openSNPrs121908094
23andMers121908094
23andMe allrs121908094
SNP Nexus

SNPshotrs121908094
SNPdbers121908094
MSV3drs121908094
GWAS Ctlgrs121908094
Max Magnitude0
OMIM606480
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121908094(T;T)
Alt rs121908094(T;T)
Reference rs121908094(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.40724064C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004495.3, RCV000128727.1,


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