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rs80359858

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAGT;AAGT) 0 common in clinvar
(TAAG;TAAG) 0 common in clinvar
Make rs80359858(-;-)
Make rs80359858(-;TAAG)
ReferenceGRCh38 38.1/141
Chromosome8
Position27780269
GeneESCO2
is asnp
is mentioned by
dbSNPrs80359858
ebirs80359858
HLIrs80359858
Exacrs80359858
Varsomers80359858
Maprs80359858
PheGenIrs80359858
hapmaprs80359858
1000 genomesrs80359858
hgdprs80359858
ensemblrs80359858
gopubmedrs80359858
geneviewrs80359858
scholarrs80359858
googlers80359858
pharmgkbrs80359858
gwascentralrs80359858
openSNPrs80359858
23andMers80359858
23andMe allrs80359858
SNP Nexus

SNPshotrs80359858
SNPdbers80359858
MSV3drs80359858
GWAS Ctlgrs80359858
Max Magnitude0
ClinVar
Risk rs80359858(;)
Alt rs80359858(;)
Reference rs80359858(AAGT;AAGT)
Significance Pathogenic
Disease Roberts-SC phocomelia syndrome
Variation info
Gene ESCO2
CLNDBN Roberts-SC phocomelia syndrome
Reversed 0
HGVS NC_000008.10:g.27637786_27637789delTAAG
CLNSRC ClinVar GeneReviews
CLNACC RCV000020414.1,


[PMID 18411254] The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.