rs281875360

Orientation

plus

Stabilized

plus

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

Make rs281875360(-;-)

Make rs281875360(-;A)

Reference

GRCh38.p2 38.2/144

Chromosome

1

Position

40258321

Gene

ZMPSTE24

is a	snp
is	mentioned by
dbSNP	rs281875360
dbSNP (classic)	rs281875360
ClinGen	rs281875360
ebi	rs281875360
HLI	rs281875360
Exac	rs281875360
Gnomad	rs281875360
Varsome	rs281875360
LitVar	rs281875360
Map	rs281875360
PheGenI	rs281875360
Biobank	rs281875360
1000 genomes	rs281875360
hgdp	rs281875360
ensembl	rs281875360
geneview	rs281875360
scholar	rs281875360
google	rs281875360
pharmgkb	rs281875360
gwascentral	rs281875360
openSNP	rs281875360
23andMe	rs281875360
SNPshot	rs281875360
SNPdbe	rs281875360
MSV3d	rs281875360
GWAS Ctlg	rs281875360

Max Magnitude

0

ClinVar
Risk	rs281875360(-;-)
Alt	rs281875360(-;-)
Reference	Rs281875360(A;A)
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.40723993delA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000034313.4, RCV000128743.1,