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rs80359846

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAAAG;AAAAG) 0 common in clinvar
(AAAGA;AAAGA) 0 common in clinvar
Make rs80359846(-;-)
Make rs80359846(-;AAAGA)
ReferenceGRCh38 38.1/141
Chromosome8
Position27776615
GeneESCO2
is asnp
is mentioned by
dbSNPrs80359846
ebirs80359846
HLIrs80359846
Exacrs80359846
Varsomers80359846
Maprs80359846
PheGenIrs80359846
hapmaprs80359846
1000 genomesrs80359846
hgdprs80359846
ensemblrs80359846
gopubmedrs80359846
geneviewrs80359846
scholarrs80359846
googlers80359846
pharmgkbrs80359846
gwascentralrs80359846
openSNPrs80359846
23andMers80359846
23andMe allrs80359846
SNP Nexus

SNPshotrs80359846
SNPdbers80359846
MSV3drs80359846
GWAS Ctlgrs80359846
Max Magnitude0
ClinVar
Risk rs80359846(;)
Alt rs80359846(;)
Reference rs80359846(AAAAG;AAAAG)
Significance Pathogenic
Disease Roberts-SC phocomelia syndrome
Variation info
Gene ESCO2
CLNDBN Roberts-SC phocomelia syndrome
Reversed 0
HGVS NC_000008.10:g.27634132_27634136delAAAGA
CLNSRC ClinVar GeneReviews
CLNACC RCV000020405.1,


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