rs80359847

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AA;AA)	0	common in clinvar

Make rs80359847(-;-)

Make rs80359847(-;AA)

Reference

GRCh38 38.1/141

Chromosome

8

Position

27776616

Gene

ESCO2

is a	snp
is	mentioned by
dbSNP	rs80359847
dbSNP (classic)	rs80359847
ClinGen	rs80359847
ebi	rs80359847
HLI	rs80359847
Exac	rs80359847
Gnomad	rs80359847
Varsome	rs80359847
LitVar	rs80359847
Map	rs80359847
PheGenI	rs80359847
Biobank	rs80359847
1000 genomes	rs80359847
hgdp	rs80359847
ensembl	rs80359847
geneview	rs80359847
scholar	rs80359847
google	rs80359847
pharmgkb	rs80359847
gwascentral	rs80359847
openSNP	rs80359847
23andMe	rs80359847
SNPshot	rs80359847
SNPdbe	rs80359847
MSV3d	rs80359847
GWAS Ctlg	rs80359847

Max Magnitude

0

ClinVar
Risk	rs80359847(-;-)
Alt	rs80359847(-;-)
Reference	Rs80359847(AA;AA)
Significance	Pathogenic
Disease	Roberts-SC phocomelia syndrome
Variation	info
Gene	ESCO2
CLNDBN	Roberts-SC phocomelia syndrome
Reversed	0
HGVS	NC_000008.10:g.27634133_27634134delAA
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020406.1,

[PMID 18411254] The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.