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rs80359856

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ACAG;ACAG) 0 common in clinvar
(GACA;GACA) 0 common in clinvar
Make rs80359856(-;-)
Make rs80359856(-;ACAG)
ReferenceGRCh38 38.1/141
Chromosome8
Position27780187
GeneESCO2
is asnp
is mentioned by
dbSNPrs80359856
ebirs80359856
HLIrs80359856
Exacrs80359856
Varsomers80359856
Maprs80359856
PheGenIrs80359856
hapmaprs80359856
1000 genomesrs80359856
hgdprs80359856
ensemblrs80359856
gopubmedrs80359856
geneviewrs80359856
scholarrs80359856
googlers80359856
pharmgkbrs80359856
gwascentralrs80359856
openSNPrs80359856
23andMers80359856
23andMe allrs80359856
SNP Nexus

SNPshotrs80359856
SNPdbers80359856
MSV3drs80359856
GWAS Ctlgrs80359856
Max Magnitude0
ClinVar
Risk rs80359856(;)
Alt rs80359856(;)
Reference rs80359856(GACA;GACA)
Significance Pathogenic
Disease Roberts-SC phocomelia syndrome
Variation info
Gene ESCO2
CLNDBN Roberts-SC phocomelia syndrome
Reversed 0
HGVS NC_000008.10:g.27637704_27637707delACAG
CLNSRC ClinVar GeneReviews
CLNACC RCV000020412.1,


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