rs281875367

Orientation

plus

Stabilized

plus

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

Make rs281875367(-;T)

Make rs281875367(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

40270091

Gene

ZMPSTE24

is a	snp
is	mentioned by
dbSNP	rs281875367
dbSNP (classic)	rs281875367
ClinGen	rs281875367
ebi	rs281875367
HLI	rs281875367
Exac	rs281875367
Gnomad	rs281875367
Varsome	rs281875367
LitVar	rs281875367
Map	rs281875367
PheGenI	rs281875367
Biobank	rs281875367
1000 genomes	rs281875367
hgdp	rs281875367
ensembl	rs281875367
geneview	rs281875367
scholar	rs281875367
google	rs281875367
pharmgkb	rs281875367
gwascentral	rs281875367
openSNP	rs281875367
23andMe	rs281875367
SNPshot	rs281875367
SNPdbe	rs281875367
MSV3d	rs281875367
GWAS Ctlg	rs281875367

Max Magnitude

0

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 16297189] Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy.