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rs80359862

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80359862(A;G)
Make rs80359862(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position27788840
GeneESCO2
is asnp
is mentioned by
dbSNPrs80359862
ebirs80359862
HLIrs80359862
Exacrs80359862
Varsomers80359862
Maprs80359862
PheGenIrs80359862
hapmaprs80359862
1000 genomesrs80359862
hgdprs80359862
ensemblrs80359862
gopubmedrs80359862
geneviewrs80359862
scholarrs80359862
googlers80359862
pharmgkbrs80359862
gwascentralrs80359862
openSNPrs80359862
23andMers80359862
23andMe allrs80359862
SNP Nexus

SNPshotrs80359862
SNPdbers80359862
MSV3drs80359862
GWAS Ctlgrs80359862
Max Magnitude0
ClinVar
Risk rs80359862(G;G)
Alt rs80359862(G;G)
Reference rs80359862(A;A)
Significance Pathogenic
Disease Roberts-SC phocomelia syndrome
Variation info
Gene ESCO2
CLNDBN Roberts-SC phocomelia syndrome
Reversed 0
HGVS NC_000008.10:g.27646357A>G
CLNSRC ClinVar GeneReviews University of Chicago
CLNACC RCV000020396.2,


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