rs80359856
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(ACAG;ACAG) | 0 | common in clinvar |
(GACA;GACA) | 0 | common in clinvar |
Make rs80359856(-;-) |
Make rs80359856(-;ACAG) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 27780187 |
Gene | ESCO2 |
is a | snp |
is | mentioned by |
dbSNP | rs80359856 |
dbSNP (classic) | rs80359856 |
ClinGen | rs80359856 |
ebi | rs80359856 |
HLI | rs80359856 |
Exac | rs80359856 |
Gnomad | rs80359856 |
Varsome | rs80359856 |
LitVar | rs80359856 |
Map | rs80359856 |
PheGenI | rs80359856 |
Biobank | rs80359856 |
1000 genomes | rs80359856 |
hgdp | rs80359856 |
ensembl | rs80359856 |
geneview | rs80359856 |
scholar | rs80359856 |
rs80359856 | |
pharmgkb | rs80359856 |
gwascentral | rs80359856 |
openSNP | rs80359856 |
23andMe | rs80359856 |
SNPshot | rs80359856 |
SNPdbe | rs80359856 |
MSV3d | rs80359856 |
GWAS Ctlg | rs80359856 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80359856(-;-) |
Alt | rs80359856(-;-) |
Reference | Rs80359856(GACA;GACA) |
Significance | Pathogenic |
Disease | Roberts-SC phocomelia syndrome |
Variation | info |
Gene | ESCO2 |
CLNDBN | Roberts-SC phocomelia syndrome |
Reversed | 0 |
HGVS | NC_000008.10:g.27637704_27637707delACAG |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000020412.1, |
[PMID 18411254] The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.