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rs80359847

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AA;AA) 0 common in clinvar
Make rs80359847(-;-)
Make rs80359847(-;AA)
ReferenceGRCh38 38.1/141
Chromosome8
Position27776616
GeneESCO2
is asnp
is mentioned by
dbSNPrs80359847
ebirs80359847
HLIrs80359847
Exacrs80359847
Varsomers80359847
Maprs80359847
PheGenIrs80359847
hapmaprs80359847
1000 genomesrs80359847
hgdprs80359847
ensemblrs80359847
gopubmedrs80359847
geneviewrs80359847
scholarrs80359847
googlers80359847
pharmgkbrs80359847
gwascentralrs80359847
openSNPrs80359847
23andMers80359847
23andMe allrs80359847
SNP Nexus

SNPshotrs80359847
SNPdbers80359847
MSV3drs80359847
GWAS Ctlgrs80359847
Max Magnitude0
ClinVar
Risk rs80359847(;)
Alt rs80359847(;)
Reference rs80359847(AA;AA)
Significance Pathogenic
Disease Roberts-SC phocomelia syndrome
Variation info
Gene ESCO2
CLNDBN Roberts-SC phocomelia syndrome
Reversed 0
HGVS NC_000008.10:g.27634133_27634134delAA
CLNSRC ClinVar GeneReviews
CLNACC RCV000020406.1,


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