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rs267607181

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267607181(G;T)
Make rs267607181(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position40271981
GeneZMPSTE24
is asnp
is mentioned by
dbSNPrs267607181
ebirs267607181
HLIrs267607181
Exacrs267607181
Varsomers267607181
Maprs267607181
PheGenIrs267607181
hapmaprs267607181
1000 genomesrs267607181
hgdprs267607181
ensemblrs267607181
gopubmedrs267607181
geneviewrs267607181
scholarrs267607181
googlers267607181
pharmgkbrs267607181
gwascentralrs267607181
openSNPrs267607181
23andMers267607181
23andMe allrs267607181
SNP Nexus

SNPshotrs267607181
SNPdbers267607181
MSV3drs267607181
GWAS Ctlgrs267607181
Max Magnitude0
ClinVar
Risk rs267607181(A,T;A,T)
Alt rs267607181(A,T;A,T)
Reference rs267607181(G;G)
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.40737653G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004497.2, RCV000128755.1,


[PMID 19504603] A case of restrictive dermopathy with complete chorioamniotic membrane separation caused by a novel homozygous nonsense mutation in the ZMPSTE24 gene.