rs80359845

Orientation

plus

Stabilized

plus

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

Make rs80359845(-;-)

Make rs80359845(-;GAGA)

Reference

GRCh38 38.1/141

Chromosome

8

Position

27776602

Gene

ESCO2

is a	snp
is	mentioned by
dbSNP	rs80359845
dbSNP (classic)	rs80359845
ClinGen	rs80359845
ebi	rs80359845
HLI	rs80359845
Exac	rs80359845
Gnomad	rs80359845
Varsome	rs80359845
LitVar	rs80359845
Map	rs80359845
PheGenI	rs80359845
Biobank	rs80359845
1000 genomes	rs80359845
hgdp	rs80359845
ensembl	rs80359845
geneview	rs80359845
scholar	rs80359845
google	rs80359845
pharmgkb	rs80359845
gwascentral	rs80359845
openSNP	rs80359845
23andMe	rs80359845
SNPshot	rs80359845
SNPdbe	rs80359845
MSV3d	rs80359845
GWAS Ctlg	rs80359845

Max Magnitude

0

ClinVar
Risk	rs80359845(-;-)
Alt	rs80359845(-;-)
Reference	Rs80359845(GAGA;GAGA)
Significance	Pathogenic
Disease	Roberts-SC phocomelia syndrome
Variation	info
Gene	ESCO2
CLNDBN	Roberts-SC phocomelia syndrome
Reversed	0
HGVS	NC_000008.10:g.27634119_27634122delGAGA
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020404.2,

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