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rs80359868

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80359868(G;G)
Make rs80359868(G;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position27799658
GeneESCO2
is asnp
is mentioned by
dbSNPrs80359868
ebirs80359868
HLIrs80359868
Exacrs80359868
Varsomers80359868
Maprs80359868
PheGenIrs80359868
hapmaprs80359868
1000 genomesrs80359868
hgdprs80359868
ensemblrs80359868
gopubmedrs80359868
geneviewrs80359868
scholarrs80359868
googlers80359868
pharmgkbrs80359868
gwascentralrs80359868
openSNPrs80359868
23andMers80359868
23andMe allrs80359868
SNP Nexus

SNPshotrs80359868
SNPdbers80359868
MSV3drs80359868
GWAS Ctlgrs80359868
Max Magnitude0
OMIM609353
Desc
Variant0001
Relatedalso
ClinVar
Risk rs80359868(G;G)
Alt rs80359868(G;G)
Reference rs80359868(T;T)
Significance Pathogenic
Disease Roberts-SC phocomelia syndrome
Variation info
Gene ESCO2
CLNDBN Roberts-SC phocomelia syndrome
Reversed 0
HGVS NC_000008.10:g.27657175T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000001805.2,


[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.