Have questions? Visit https://www.reddit.com/r/SNPedia

rs281875367

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281875367(-;-)
Make rs281875367(-;T)
Make rs281875367(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position40270091
GeneZMPSTE24
is asnp
is mentioned by
dbSNPrs281875367
ebirs281875367
HLIrs281875367
Exacrs281875367
Varsomers281875367
Maprs281875367
PheGenIrs281875367
hapmaprs281875367
1000 genomesrs281875367
hgdprs281875367
ensemblrs281875367
gopubmedrs281875367
geneviewrs281875367
scholarrs281875367
googlers281875367
pharmgkbrs281875367
gwascentralrs281875367
openSNPrs281875367
23andMers281875367
23andMe allrs281875367
SNP Nexus

SNPshotrs281875367
SNPdbers281875367
MSV3drs281875367
GWAS Ctlgrs281875367
Max Magnitude0
ClinVar
Risk rs281875367(T;T)
Alt rs281875367(T;T)
Reference rs281875367(;)
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.40735763dupT
CLNSRC OMIM Allelic Variant
CLNACC RCV000023549.3, RCV000128745.1,


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