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rs80359850

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80359850(C;T)
Make rs80359850(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position27776912
GeneESCO2
is asnp
is mentioned by
dbSNPrs80359850
ebirs80359850
HLIrs80359850
Exacrs80359850
Varsomers80359850
Maprs80359850
PheGenIrs80359850
hapmaprs80359850
1000 genomesrs80359850
hgdprs80359850
ensemblrs80359850
gopubmedrs80359850
geneviewrs80359850
scholarrs80359850
googlers80359850
pharmgkbrs80359850
gwascentralrs80359850
openSNPrs80359850
23andMers80359850
23andMe allrs80359850
SNP Nexus

SNPshotrs80359850
SNPdbers80359850
MSV3drs80359850
GWAS Ctlgrs80359850
Max Magnitude0
OMIM609353
Desc
Variant0006
Relatedalso
ClinVar
Risk rs80359850(T;T)
Alt rs80359850(T;T)
Reference rs80359850(C;C)
Significance Pathogenic
Disease Roberts-SC phocomelia syndrome
Variation info
Gene ESCO2
CLNDBN Roberts-SC phocomelia syndrome
Reversed 0
HGVS NC_000008.10:g.27634429C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001810.3,


[PMID 3740099] SC phocomelia syndrome, premature centromere separation, and congenital cranial nerve paralysis in two sisters, one with malignant melanoma.


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