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rs281875360

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs281875360(-;-)
Make rs281875360(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome1
Position40258321
GeneZMPSTE24
is asnp
is mentioned by
dbSNPrs281875360
ebirs281875360
HLIrs281875360
Exacrs281875360
Varsomers281875360
Maprs281875360
PheGenIrs281875360
hapmaprs281875360
1000 genomesrs281875360
hgdprs281875360
ensemblrs281875360
gopubmedrs281875360
geneviewrs281875360
scholarrs281875360
googlers281875360
pharmgkbrs281875360
gwascentralrs281875360
openSNPrs281875360
23andMers281875360
23andMe allrs281875360
SNP Nexus

SNPshotrs281875360
SNPdbers281875360
MSV3drs281875360
GWAS Ctlgrs281875360
Max Magnitude0
ClinVar
Risk rs281875360(;)
Alt rs281875360(;)
Reference rs281875360(A;A)
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.40723993delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000034313.4, RCV000128743.1,