rs80359863

Orientation

plus

Stabilized

plus

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

Make rs80359863(C;C)

Make rs80359863(C;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

27788979

Gene

ESCO2

is a	snp
is	mentioned by
dbSNP	rs80359863
dbSNP (classic)	rs80359863
ClinGen	rs80359863
ebi	rs80359863
HLI	rs80359863
Exac	rs80359863
Gnomad	rs80359863
Varsome	rs80359863
LitVar	rs80359863
Map	rs80359863
PheGenI	rs80359863
Biobank	rs80359863
1000 genomes	rs80359863
hgdp	rs80359863
ensembl	rs80359863
geneview	rs80359863
scholar	rs80359863
google	rs80359863
pharmgkb	rs80359863
gwascentral	rs80359863
openSNP	rs80359863
23andMe	rs80359863
SNPshot	rs80359863
SNPdbe	rs80359863
MSV3d	rs80359863
GWAS Ctlg	rs80359863

Max Magnitude

0

ClinVar
Risk	rs80359863(C;C)
Alt	rs80359863(C;C)
Reference	Rs80359863(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.27646496G>C
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020397.1,

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