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rs80359864

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80359864(A;A)
Make rs80359864(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position27791968
GeneESCO2
is asnp
is mentioned by
dbSNPrs80359864
ebirs80359864
HLIrs80359864
Exacrs80359864
Varsomers80359864
Maprs80359864
PheGenIrs80359864
hapmaprs80359864
1000 genomesrs80359864
hgdprs80359864
ensemblrs80359864
gopubmedrs80359864
geneviewrs80359864
scholarrs80359864
googlers80359864
pharmgkbrs80359864
gwascentralrs80359864
openSNPrs80359864
23andMers80359864
23andMe allrs80359864
SNP Nexus

SNPshotrs80359864
SNPdbers80359864
MSV3drs80359864
GWAS Ctlgrs80359864
Max Magnitude0
OMIM609353
Desc
Variant0005
Relatedalso
ClinVar
Risk rs80359864(A;A)
Alt rs80359864(A;A)
Reference rs80359864(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.27649485G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000001809.3,


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