rs80359861

Orientation

plus

Stabilized

plus

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

Make rs80359861(A;A)

Make rs80359861(A;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

27788003

Gene

ESCO2

is a	snp
is	mentioned by
dbSNP	rs80359861
dbSNP (classic)	rs80359861
ClinGen	rs80359861
ebi	rs80359861
HLI	rs80359861
Exac	rs80359861
Gnomad	rs80359861
Varsome	rs80359861
LitVar	rs80359861
Map	rs80359861
PheGenI	rs80359861
Biobank	rs80359861
1000 genomes	rs80359861
hgdp	rs80359861
ensembl	rs80359861
geneview	rs80359861
scholar	rs80359861
google	rs80359861
pharmgkb	rs80359861
gwascentral	rs80359861
openSNP	rs80359861
23andMe	rs80359861
SNPshot	rs80359861
SNPdbe	rs80359861
MSV3d	rs80359861
GWAS Ctlg	rs80359861

Max Magnitude

0

ClinVar
Risk	rs80359861(A;A)
Alt	rs80359861(A;A)
Reference	Rs80359861(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.27645520G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020395.1,

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