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

rs80359852

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs80359852(-;-)
Make rs80359852(-;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position27777059
GeneESCO2
is asnp
is mentioned by
dbSNPrs80359852
ebirs80359852
HLIrs80359852
Exacrs80359852
Varsomers80359852
Maprs80359852
PheGenIrs80359852
hapmaprs80359852
1000 genomesrs80359852
hgdprs80359852
ensemblrs80359852
gopubmedrs80359852
geneviewrs80359852
scholarrs80359852
googlers80359852
pharmgkbrs80359852
gwascentralrs80359852
openSNPrs80359852
23andMers80359852
23andMe allrs80359852
SNP Nexus

SNPshotrs80359852
SNPdbers80359852
MSV3drs80359852
GWAS Ctlgrs80359852
Max Magnitude0
OMIM609353
Desc
Variant0003
Relatedalso
ClinVar
Risk rs80359852(GA,GG;GA,GG)
Alt rs80359852(GA,GG;GA,GG)
Reference rs80359852(G;G)
Significance Pathogenic
Disease Roberts-SC phocomelia syndrome
Variation info
Gene ESCO2
CLNDBN Roberts-SC phocomelia syndrome
Reversed 0
HGVS NC_000008.10:g.27634576dupG
CLNSRC OMIM Allelic Variant
CLNACC RCV000001807.2,


[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.