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rs80359859

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80359859(-;-)
Make rs80359859(-;A)
ReferenceGRCh38 38.1/141
Chromosome8
Position27787982
GeneESCO2
is asnp
is mentioned by
dbSNPrs80359859
ebirs80359859
HLIrs80359859
Exacrs80359859
Varsomers80359859
Maprs80359859
PheGenIrs80359859
hapmaprs80359859
1000 genomesrs80359859
hgdprs80359859
ensemblrs80359859
gopubmedrs80359859
geneviewrs80359859
scholarrs80359859
googlers80359859
pharmgkbrs80359859
gwascentralrs80359859
openSNPrs80359859
23andMers80359859
23andMe allrs80359859
SNP Nexus

SNPshotrs80359859
SNPdbers80359859
MSV3drs80359859
GWAS Ctlgrs80359859
Max Magnitude0
ClinVar
Risk rs80359859(AA,AG;AA,AG)
Alt rs80359859(AA,AG;AA,AG)
Reference rs80359859(A;A)
Significance Pathogenic
Disease Roberts-SC phocomelia syndrome
Variation info
Gene ESCO2
CLNDBN Roberts-SC phocomelia syndrome
Reversed 0
HGVS NC_000008.10:g.27645499_27645500insG; NC_000008.10:g.27645499dupA
CLNSRC ClinVar GeneReviews
CLNACC RCV000020393.1, RCV000020394.1,


[PMID 15821733] Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion.


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