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rs80359861

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80359861(A;A)
Make rs80359861(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position27788003
GeneESCO2
is asnp
is mentioned by
dbSNPrs80359861
ebirs80359861
HLIrs80359861
Exacrs80359861
Varsomers80359861
Maprs80359861
PheGenIrs80359861
hapmaprs80359861
1000 genomesrs80359861
hgdprs80359861
ensemblrs80359861
gopubmedrs80359861
geneviewrs80359861
scholarrs80359861
googlers80359861
pharmgkbrs80359861
gwascentralrs80359861
openSNPrs80359861
23andMers80359861
23andMe allrs80359861
SNP Nexus

SNPshotrs80359861
SNPdbers80359861
MSV3drs80359861
GWAS Ctlgrs80359861
Max Magnitude0
ClinVar
Risk rs80359861(A;A)
Alt rs80359861(A;A)
Reference rs80359861(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.27645520G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020395.1,


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