rs80359858

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AAGT;AAGT)	0	common in clinvar
(I;I)	0	common genotype
(TAAG;TAAG)	0	common in clinvar

Make rs80359858(-;-)

Make rs80359858(-;TAAG)

Reference

GRCh38 38.1/141

Chromosome

8

Position

27780269

Gene

ESCO2

is a	snp
is	mentioned by
dbSNP	rs80359858
dbSNP (classic)	rs80359858
ClinGen	rs80359858
ebi	rs80359858
HLI	rs80359858
Exac	rs80359858
Gnomad	rs80359858
Varsome	rs80359858
LitVar	rs80359858
Map	rs80359858
PheGenI	rs80359858
Biobank	rs80359858
1000 genomes	rs80359858
hgdp	rs80359858
ensembl	rs80359858
geneview	rs80359858
scholar	rs80359858
google	rs80359858
pharmgkb	rs80359858
gwascentral	rs80359858
openSNP	rs80359858
23andMe	rs80359858
SNPshot	rs80359858
SNPdbe	rs80359858
MSV3d	rs80359858
GWAS Ctlg	rs80359858

Max Magnitude

0

ClinVar
Risk	rs80359858(-;-) Rs80359858(AAGT;AAGT)
Alt	rs80359858(-;-) Rs80359858(AAGT;AAGT)
Reference	Rs80359858(TAAG;TAAG)
Significance	Pathogenic
Disease	Roberts-SC phocomelia syndrome
Variation	info
Gene	ESCO2
CLNDBN	Roberts-SC phocomelia syndrome
Reversed	0
HGVS	NC_000008.10:g.27637786_27637789delTAAG
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020414.1,

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