rs121908093

Orientation

plus

Stabilized

plus

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

Make rs121908093(C;C)

Make rs121908093(C;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

40285988

Gene

ZMPSTE24

is a	snp
is	mentioned by
dbSNP	rs121908093
dbSNP (classic)	rs121908093
ClinGen	rs121908093
ebi	rs121908093
HLI	rs121908093
Exac	rs121908093
Gnomad	rs121908093
Varsome	rs121908093
LitVar	rs121908093
Map	rs121908093
PheGenI	rs121908093
Biobank	rs121908093
1000 genomes	rs121908093
hgdp	rs121908093
ensembl	rs121908093
geneview	rs121908093
scholar	rs121908093
google	rs121908093
pharmgkb	rs121908093
gwascentral	rs121908093
openSNP	rs121908093
23andMe	rs121908093
SNPshot	rs121908093
SNPdbe	rs121908093
MSV3d	rs121908093
GWAS Ctlg	rs121908093

Max Magnitude

0

OMIM	606480
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121908093(C;C)
Alt	rs121908093(C;C)
Reference	Rs121908093(T;T)
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.40751660T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000004493.4, RCV000128719.1,

[PMID 12913070] Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia.