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

rs80359866

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs80359866(-;-)
Make rs80359866(-;AG)
ReferenceGRCh38 38.1/141
Chromosome8
Position27792775
GeneESCO2
is asnp
is mentioned by
dbSNPrs80359866
ebirs80359866
HLIrs80359866
Exacrs80359866
Varsomers80359866
Maprs80359866
PheGenIrs80359866
hapmaprs80359866
1000 genomesrs80359866
hgdprs80359866
ensemblrs80359866
gopubmedrs80359866
geneviewrs80359866
scholarrs80359866
googlers80359866
pharmgkbrs80359866
gwascentralrs80359866
openSNPrs80359866
23andMers80359866
23andMe allrs80359866
SNP Nexus

SNPshotrs80359866
SNPdbers80359866
MSV3drs80359866
GWAS Ctlgrs80359866
Max Magnitude0
ClinVar
Risk rs80359866(;)
Alt rs80359866(;)
Reference rs80359866(AG;AG)
Significance Pathogenic
Disease Roberts-SC phocomelia syndrome
Variation info
Gene ESCO2
CLNDBN Roberts-SC phocomelia syndrome
Reversed 0
HGVS NC_000008.10:g.27650292_27650293delAG
CLNSRC ClinVar GeneReviews
CLNACC RCV000020399.1,


[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.