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rs80359863

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80359863(C;C)
Make rs80359863(C;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position27788979
GeneESCO2
is asnp
is mentioned by
dbSNPrs80359863
ebirs80359863
HLIrs80359863
Exacrs80359863
Varsomers80359863
Maprs80359863
PheGenIrs80359863
hapmaprs80359863
1000 genomesrs80359863
hgdprs80359863
ensemblrs80359863
gopubmedrs80359863
geneviewrs80359863
scholarrs80359863
googlers80359863
pharmgkbrs80359863
gwascentralrs80359863
openSNPrs80359863
23andMers80359863
23andMe allrs80359863
SNP Nexus

SNPshotrs80359863
SNPdbers80359863
MSV3drs80359863
GWAS Ctlgrs80359863
Max Magnitude0
ClinVar
Risk rs80359863(C;C)
Alt rs80359863(C;C)
Reference rs80359863(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.27646496G>C
CLNSRC ClinVar GeneReviews
CLNACC RCV000020397.1,


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