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rs281875375

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs281875375(-;-)
Make rs281875375(-;T)
Make rs281875375(T;T)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position40292504
GeneZMPSTE24
is asnp
is mentioned by
dbSNPrs281875375
ebirs281875375
HLIrs281875375
Exacrs281875375
Varsomers281875375
Maprs281875375
PheGenIrs281875375
hapmaprs281875375
1000 genomesrs281875375
hgdprs281875375
ensemblrs281875375
gopubmedrs281875375
geneviewrs281875375
scholarrs281875375
googlers281875375
pharmgkbrs281875375
gwascentralrs281875375
openSNPrs281875375
23andMers281875375
23andMe allrs281875375
SNP Nexus

SNPshotrs281875375
SNPdbers281875375
MSV3drs281875375
GWAS Ctlgrs281875375
Max Magnitude0
ClinVar
Risk rs281875375(T;T)
Alt rs281875375(T;T)
Reference rs281875375(;)
Significance Pathogenic
Disease not provided Lethal tight skin contracture syndrome Mandibuloacral dysplasia with type B lipodystrophy
Variation info
Gene ZMPSTE24
CLNDBN not provided Lethal tight skin contracture syndrome Mandibuloacral dysplasia with type B lipodystrophy
Reversed 0
HGVS NC_000001.10:g.40758176dupT
CLNSRC
CLNACC RCV000128730.1, RCV000173816.1, RCV000173817.1,