Have questions? Visit https://www.reddit.com/r/SNPedia

rs80359855

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TT;TT) 0 common in clinvar
Make rs80359855(-;-)
Make rs80359855(-;TT)
ReferenceGRCh38 38.1/141
Chromosome8
Position27777072
GeneESCO2
is asnp
is mentioned by
dbSNPrs80359855
ebirs80359855
HLIrs80359855
Exacrs80359855
Varsomers80359855
Maprs80359855
PheGenIrs80359855
hapmaprs80359855
1000 genomesrs80359855
hgdprs80359855
ensemblrs80359855
gopubmedrs80359855
geneviewrs80359855
scholarrs80359855
googlers80359855
pharmgkbrs80359855
gwascentralrs80359855
openSNPrs80359855
23andMers80359855
23andMe allrs80359855
SNP Nexus

SNPshotrs80359855
SNPdbers80359855
MSV3drs80359855
GWAS Ctlgrs80359855
Max Magnitude0
ClinVar
Risk rs80359855(;)
Alt rs80359855(;)
Reference rs80359855(TT;TT)
Significance Pathogenic
Disease Roberts-SC phocomelia syndrome
Variation info
Gene ESCO2
CLNDBN Roberts-SC phocomelia syndrome
Reversed 0
HGVS NC_000008.10:g.27634589_27634590delTT
CLNSRC ClinVar GeneReviews
CLNACC RCV000020411.1,


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