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rs80359849

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80359849(C;T)
Make rs80359849(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position27776813
GeneESCO2
is asnp
is mentioned by
dbSNPrs80359849
ebirs80359849
HLIrs80359849
Exacrs80359849
Varsomers80359849
Maprs80359849
PheGenIrs80359849
hapmaprs80359849
1000 genomesrs80359849
hgdprs80359849
ensemblrs80359849
gopubmedrs80359849
geneviewrs80359849
scholarrs80359849
googlers80359849
pharmgkbrs80359849
gwascentralrs80359849
openSNPrs80359849
23andMers80359849
23andMe allrs80359849
SNP Nexus

SNPshotrs80359849
SNPdbers80359849
MSV3drs80359849
GWAS Ctlgrs80359849
Max Magnitude0
OMIM609353
Desc
Variant0002
Relatedalso
ClinVar
Risk rs80359849(T;T)
Alt rs80359849(T;T)
Reference rs80359849(C;C)
Significance Pathogenic
Disease Roberts-SC phocomelia syndrome
Variation info
Gene ESCO2
CLNDBN Roberts-SC phocomelia syndrome
Reversed 0
HGVS NC_000008.10:g.27634330C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001806.2,


[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.