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rs80359845

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GAGA;GAGA) 0 common in clinvar
Make rs80359845(-;-)
Make rs80359845(-;GAGA)
ReferenceGRCh38 38.1/141
Chromosome8
Position27776602
GeneESCO2
is asnp
is mentioned by
dbSNPrs80359845
ebirs80359845
HLIrs80359845
Exacrs80359845
Varsomers80359845
Maprs80359845
PheGenIrs80359845
hapmaprs80359845
1000 genomesrs80359845
hgdprs80359845
ensemblrs80359845
gopubmedrs80359845
geneviewrs80359845
scholarrs80359845
googlers80359845
pharmgkbrs80359845
gwascentralrs80359845
openSNPrs80359845
23andMers80359845
23andMe allrs80359845
SNP Nexus

SNPshotrs80359845
SNPdbers80359845
MSV3drs80359845
GWAS Ctlgrs80359845
Max Magnitude0
ClinVar
Risk rs80359845(;)
Alt rs80359845(;)
Reference rs80359845(GAGA;GAGA)
Significance Pathogenic
Disease Roberts-SC phocomelia syndrome
Variation info
Gene ESCO2
CLNDBN Roberts-SC phocomelia syndrome
Reversed 0
HGVS NC_000008.10:g.27634119_27634122delGAGA
CLNSRC ClinVar GeneReviews
CLNACC RCV000020404.2,


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