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rs281875361

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281875361(-;-)
Make rs281875361(-;T)
Make rs281875361(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position40258325
GeneZMPSTE24
is asnp
is mentioned by
dbSNPrs281875361
ebirs281875361
HLIrs281875361
Exacrs281875361
Varsomers281875361
Maprs281875361
PheGenIrs281875361
hapmaprs281875361
1000 genomesrs281875361
hgdprs281875361
ensemblrs281875361
gopubmedrs281875361
geneviewrs281875361
scholarrs281875361
googlers281875361
pharmgkbrs281875361
gwascentralrs281875361
openSNPrs281875361
23andMers281875361
23andMe allrs281875361
SNP Nexus

SNPshotrs281875361
SNPdbers281875361
MSV3drs281875361
GWAS Ctlgrs281875361
Max Magnitude0
ClinVar
Risk rs281875361(T;T)
Alt rs281875361(T;T)
Reference rs281875361(;)
Significance Pathogenic
Disease Lethal tight skin contracture syndrome not provided
Variation info
Gene ZMPSTE24
CLNDBN Lethal tight skin contracture syndrome not provided
Reversed 0
HGVS NC_000001.10:g.40723997dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000023548.3, RCV000128744.1,


[PMID 16297189OA-icon.png] Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy.


[PMID 20635340] Restrictive dermopathy and ZMPSTE24 mutations in Mennonites: Evidence for allelic heterogeneity.