rs80359853

Orientation

plus

Stabilized

plus

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

Make rs80359853(-;A)

Make rs80359853(A;A)

Reference

GRCh38 38.1/141

Chromosome

8

Position

27777068

Gene

ESCO2

is a	snp
is	mentioned by
dbSNP	rs80359853
dbSNP (classic)	rs80359853
ClinGen	rs80359853
ebi	rs80359853
HLI	rs80359853
Exac	rs80359853
Gnomad	rs80359853
Varsome	rs80359853
LitVar	rs80359853
Map	rs80359853
PheGenI	rs80359853
Biobank	rs80359853
1000 genomes	rs80359853
hgdp	rs80359853
ensembl	rs80359853
geneview	rs80359853
scholar	rs80359853
google	rs80359853
pharmgkb	rs80359853
gwascentral	rs80359853
openSNP	rs80359853
23andMe	rs80359853
SNPshot	rs80359853
SNPdbe	rs80359853
MSV3d	rs80359853
GWAS Ctlg	rs80359853

Max Magnitude

0

OMIM	609353
Desc
Variant	0004
Related	also

ClinVar
Risk	rs80359853(A;A)
Alt	rs80359853(A;A)
Reference	Rs80359853(-;-)
Significance	Pathogenic
Disease	Roberts-SC phocomelia syndrome
Variation	info
Gene	ESCO2
CLNDBN	Roberts-SC phocomelia syndrome
Reversed	0
HGVS	NC_000008.10:g.27634585dupA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001808.3,

[PMID 16380922] Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.

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