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rs80359869

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs80359869(A;G)
Make rs80359869(G;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position27803304
GeneESCO2
is asnp
is mentioned by
dbSNPrs80359869
ebirs80359869
HLIrs80359869
Exacrs80359869
Varsomers80359869
Maprs80359869
PheGenIrs80359869
hapmaprs80359869
1000 genomesrs80359869
hgdprs80359869
ensemblrs80359869
gopubmedrs80359869
geneviewrs80359869
scholarrs80359869
googlers80359869
pharmgkbrs80359869
gwascentralrs80359869
openSNPrs80359869
23andMers80359869
23andMe allrs80359869
SNP Nexus

SNPshotrs80359869
SNPdbers80359869
MSV3drs80359869
GWAS Ctlgrs80359869
Max Magnitude0
ClinVar
Risk rs80359869(G;G)
Alt rs80359869(G;G)
Reference rs80359869(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.27660821A>G
CLNSRC ClinVar GeneReviews
CLNACC RCV000020401.1,


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