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rs786205123

From SNPedia

Orientationplus
Geno Mag Summary
(TA;TA) 0 common in clinvar
Make rs786205123(-;-)
Make rs786205123(-;AT)
Make rs786205123(AT;AT)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position40270084
GeneZMPSTE24
is asnp
is mentioned by
dbSNPrs786205123
ebirs786205123
HLIrs786205123
Exacrs786205123
Varsomers786205123
Maprs786205123
PheGenIrs786205123
hapmaprs786205123
1000 genomesrs786205123
hgdprs786205123
ensemblrs786205123
gopubmedrs786205123
geneviewrs786205123
scholarrs786205123
googlers786205123
pharmgkbrs786205123
gwascentralrs786205123
openSNPrs786205123
23andMers786205123
23andMe allrs786205123
SNP Nexus

SNPshotrs786205123
SNPdbers786205123
MSV3drs786205123
GWAS Ctlgrs786205123
Max Magnitude0
ClinVar
Risk rs786205123(;)
Alt rs786205123(;)
Reference rs786205123(TA;TA)
Significance Pathogenic
Disease Lethal tight skin contracture syndrome
Variation info
Gene ZMPSTE24
CLNDBN Lethal tight skin contracture syndrome
Reversed 0
HGVS NC_000001.10:g.40735756_40735757delAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000034314.4,