rs281875376

Orientation

plus

Stabilized

plus

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

Make rs281875376(A;A)

Make rs281875376(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

40292590

Gene

ZMPSTE24

is a	snp
is	mentioned by
dbSNP	rs281875376
dbSNP (classic)	rs281875376
ClinGen	rs281875376
ebi	rs281875376
HLI	rs281875376
Exac	rs281875376
Gnomad	rs281875376
Varsome	rs281875376
LitVar	rs281875376
Map	rs281875376
PheGenI	rs281875376
Biobank	rs281875376
1000 genomes	rs281875376
hgdp	rs281875376
ensembl	rs281875376
geneview	rs281875376
scholar	rs281875376
google	rs281875376
pharmgkb	rs281875376
gwascentral	rs281875376
openSNP	rs281875376
23andMe	rs281875376
SNPshot	rs281875376
SNPdbe	rs281875376
MSV3d	rs281875376
GWAS Ctlg	rs281875376

Max Magnitude

0

ClinVar
Risk	rs281875376(A;A)
Alt	rs281875376(A;A)
Reference	Rs281875376(G;G)
Significance	Pathogenic
Disease	Mandibuloacral dysplasia with type B lipodystrophy not provided
Variation	info
Gene	ZMPSTE24
CLNDBN	Mandibuloacral dysplasia with type B lipodystrophy not provided
Reversed	0
HGVS	NC_000001.10:g.40758262G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023550.3, RCV000128732.1,

[PMID 20814950] Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24.