rs80359855

Orientation

plus

Stabilized

plus

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

Make rs80359855(-;-)

Make rs80359855(-;TT)

Reference

GRCh38 38.1/141

Chromosome

8

Position

27777072

Gene

ESCO2

is a	snp
is	mentioned by
dbSNP	rs80359855
dbSNP (classic)	rs80359855
ClinGen	rs80359855
ebi	rs80359855
HLI	rs80359855
Exac	rs80359855
Gnomad	rs80359855
Varsome	rs80359855
LitVar	rs80359855
Map	rs80359855
PheGenI	rs80359855
Biobank	rs80359855
1000 genomes	rs80359855
hgdp	rs80359855
ensembl	rs80359855
geneview	rs80359855
scholar	rs80359855
google	rs80359855
pharmgkb	rs80359855
gwascentral	rs80359855
openSNP	rs80359855
23andMe	rs80359855
SNPshot	rs80359855
SNPdbe	rs80359855
MSV3d	rs80359855
GWAS Ctlg	rs80359855

Max Magnitude

0

ClinVar
Risk	rs80359855(-;-)
Alt	rs80359855(-;-)
Reference	Rs80359855(TT;TT)
Significance	Pathogenic
Disease	Roberts-SC phocomelia syndrome
Variation	info
Gene	ESCO2
CLNDBN	Roberts-SC phocomelia syndrome
Reversed	0
HGVS	NC_000008.10:g.27634589_27634590delTT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020411.1,

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