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rs80359851

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GT;GT) 0 common in clinvar
(TG;TG) 0 common in clinvar
Make rs80359851(-;-)
Make rs80359851(-;GT)
ReferenceGRCh38 38.1/141
Chromosome8
Position27777053
GeneESCO2
is asnp
is mentioned by
dbSNPrs80359851
ebirs80359851
HLIrs80359851
Exacrs80359851
Varsomers80359851
Maprs80359851
PheGenIrs80359851
hapmaprs80359851
1000 genomesrs80359851
hgdprs80359851
ensemblrs80359851
gopubmedrs80359851
geneviewrs80359851
scholarrs80359851
googlers80359851
pharmgkbrs80359851
gwascentralrs80359851
openSNPrs80359851
23andMers80359851
23andMe allrs80359851
SNP Nexus

SNPshotrs80359851
SNPdbers80359851
MSV3drs80359851
GWAS Ctlgrs80359851
Max Magnitude0
ClinVar
Risk rs80359851(;)
Alt rs80359851(;)
Reference rs80359851(TG;TG)
Significance Pathogenic
Disease Roberts-SC phocomelia syndrome
Variation info
Gene ESCO2
CLNDBN Roberts-SC phocomelia syndrome
Reversed 0
HGVS NC_000008.10:g.27634570_27634571delGT
CLNSRC ClinVar GeneReviews
CLNACC RCV000020408.1,


[PMID 16775838] A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency.