Have questions? Visit https://www.reddit.com/r/SNPedia

rs281875376

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281875376(A;A)
Make rs281875376(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position40292590
GeneZMPSTE24
is asnp
is mentioned by
dbSNPrs281875376
ebirs281875376
HLIrs281875376
Exacrs281875376
Varsomers281875376
Maprs281875376
PheGenIrs281875376
hapmaprs281875376
1000 genomesrs281875376
hgdprs281875376
ensemblrs281875376
gopubmedrs281875376
geneviewrs281875376
scholarrs281875376
googlers281875376
pharmgkbrs281875376
gwascentralrs281875376
openSNPrs281875376
23andMers281875376
23andMe allrs281875376
SNP Nexus

SNPshotrs281875376
SNPdbers281875376
MSV3drs281875376
GWAS Ctlgrs281875376
Max Magnitude0
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 20814950OA-icon.png] Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24.