Have questions? Visit https://www.reddit.com/r/SNPedia

rs80359865

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80359865(A;A)
Make rs80359865(A;G)
ReferenceGRCh38 38.1/141
Chromosome8
Position27792650
GeneESCO2
is asnp
is mentioned by
dbSNPrs80359865
ebirs80359865
HLIrs80359865
Exacrs80359865
Varsomers80359865
Maprs80359865
PheGenIrs80359865
hapmaprs80359865
1000 genomesrs80359865
hgdprs80359865
ensemblrs80359865
gopubmedrs80359865
geneviewrs80359865
scholarrs80359865
googlers80359865
pharmgkbrs80359865
gwascentralrs80359865
openSNPrs80359865
23andMers80359865
23andMe allrs80359865
SNP Nexus

SNPshotrs80359865
SNPdbers80359865
MSV3drs80359865
GWAS Ctlgrs80359865
Max Magnitude0
ClinVar
Risk rs80359865(A;A)
Alt rs80359865(A;A)
Reference rs80359865(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.27650167G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020398.1,


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