rs80359856

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
google	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.