rs80359864

Orientation

plus

Stabilized

plus

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

Make rs80359864(A;A)

Make rs80359864(A;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

27791968

Gene

ESCO2

is a	snp
is	mentioned by
dbSNP	rs80359864
dbSNP (classic)	rs80359864
ClinGen	rs80359864
ebi	rs80359864
HLI	rs80359864
Exac	rs80359864
Gnomad	rs80359864
Varsome	rs80359864
LitVar	rs80359864
Map	rs80359864
PheGenI	rs80359864
Biobank	rs80359864
1000 genomes	rs80359864
hgdp	rs80359864
ensembl	rs80359864
geneview	rs80359864
scholar	rs80359864
google	rs80359864
pharmgkb	rs80359864
gwascentral	rs80359864
openSNP	rs80359864
23andMe	rs80359864
SNPshot	rs80359864
SNPdbe	rs80359864
MSV3d	rs80359864
GWAS Ctlg	rs80359864

Max Magnitude

0

OMIM	609353
Desc
Variant	0005
Related	also

ClinVar
Risk	rs80359864(A;A)
Alt	rs80359864(A;A)
Reference	Rs80359864(G;G)
Significance	Pathogenic
Disease	Roberts-SC phocomelia syndrome
Variation	info
Gene	ESCO2
CLNDBN	Roberts-SC phocomelia syndrome
Reversed	0
HGVS	NC_000008.10:g.27649485G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001809.3,

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