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rs80359844

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AT;AT) 0 common in clinvar
(TA;TA) 0 common in clinvar
Make rs80359844(-;-)
Make rs80359844(-;AT)
ReferenceGRCh38 38.1/141
Chromosome8
Position27776560
GeneESCO2
is asnp
is mentioned by
dbSNPrs80359844
ebirs80359844
HLIrs80359844
Exacrs80359844
Varsomers80359844
Maprs80359844
PheGenIrs80359844
hapmaprs80359844
1000 genomesrs80359844
hgdprs80359844
ensemblrs80359844
gopubmedrs80359844
geneviewrs80359844
scholarrs80359844
googlers80359844
pharmgkbrs80359844
gwascentralrs80359844
openSNPrs80359844
23andMers80359844
23andMe allrs80359844
SNP Nexus

SNPshotrs80359844
SNPdbers80359844
MSV3drs80359844
GWAS Ctlgrs80359844
Max Magnitude0
ClinVar
Risk rs80359844(;)
Alt rs80359844(;)
Reference rs80359844(TA;TA)
Significance Pathogenic
Disease Roberts-SC phocomelia syndrome
Variation info
Gene ESCO2
CLNDBN Roberts-SC phocomelia syndrome
Reversed 0
HGVS NC_000008.10:g.27634077_27634078delAT
CLNSRC ClinVar GeneReviews
CLNACC RCV000020403.1,


[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.