rs281875361

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar

Make rs281875361(-;T)

Make rs281875361(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

40258325

Gene

ZMPSTE24

is a	snp
is	mentioned by
dbSNP	rs281875361
dbSNP (classic)	rs281875361
ClinGen	rs281875361
ebi	rs281875361
HLI	rs281875361
Exac	rs281875361
Gnomad	rs281875361
Varsome	rs281875361
LitVar	rs281875361
Map	rs281875361
PheGenI	rs281875361
Biobank	rs281875361
1000 genomes	rs281875361
hgdp	rs281875361
ensembl	rs281875361
geneview	rs281875361
scholar	rs281875361
google	rs281875361
pharmgkb	rs281875361
gwascentral	rs281875361
openSNP	rs281875361
23andMe	rs281875361
SNPshot	rs281875361
SNPdbe	rs281875361
MSV3d	rs281875361
GWAS Ctlg	rs281875361

Max Magnitude

0

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	RCV000023548.4, RCV000128744.1,

[PMID 16297189] 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.