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rs80359867

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs80359867(-;-)
Make rs80359867(-;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position27799640
GeneESCO2
is asnp
is mentioned by
dbSNPrs80359867
ebirs80359867
HLIrs80359867
Exacrs80359867
Varsomers80359867
Maprs80359867
PheGenIrs80359867
hapmaprs80359867
1000 genomesrs80359867
hgdprs80359867
ensemblrs80359867
gopubmedrs80359867
geneviewrs80359867
scholarrs80359867
googlers80359867
pharmgkbrs80359867
gwascentralrs80359867
openSNPrs80359867
23andMers80359867
23andMe allrs80359867
SNP Nexus

SNPshotrs80359867
SNPdbers80359867
MSV3drs80359867
GWAS Ctlgrs80359867
Max Magnitude0
ClinVar
Risk rs80359867(TT,TTG;TT,TTG)
Alt rs80359867(TT,TTG;TT,TTG)
Reference rs80359867(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.27657157dupT
CLNSRC ClinVar GeneReviews
CLNACC RCV000020400.1,


[PMID 16380922OA-icon.png] Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.