rs80359862

Orientation

plus

Stabilized

plus

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

Make rs80359862(A;G)

Make rs80359862(G;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

27788840

Gene

ESCO2

is a	snp
is	mentioned by
dbSNP	rs80359862
dbSNP (classic)	rs80359862
ClinGen	rs80359862
ebi	rs80359862
HLI	rs80359862
Exac	rs80359862
Gnomad	rs80359862
Varsome	rs80359862
LitVar	rs80359862
Map	rs80359862
PheGenI	rs80359862
Biobank	rs80359862
1000 genomes	rs80359862
hgdp	rs80359862
ensembl	rs80359862
geneview	rs80359862
scholar	rs80359862
google	rs80359862
pharmgkb	rs80359862
gwascentral	rs80359862
openSNP	rs80359862
23andMe	rs80359862
SNPshot	rs80359862
SNPdbe	rs80359862
MSV3d	rs80359862
GWAS Ctlg	rs80359862

Max Magnitude

0

ClinVar
Risk	rs80359862(G;G) rs80359862(T;T)
Alt	rs80359862(G;G) rs80359862(T;T)
Reference	Rs80359862(A;A)
Significance	Pathogenic
Disease	Roberts-SC phocomelia syndrome
Variation	info
Gene	ESCO2
CLNDBN	Roberts-SC phocomelia syndrome
Reversed	0
HGVS	NC_000008.10:g.27646357A>G
CLNSRC	ClinVar GeneReviews University of Chicago
CLNACC	RCV000020396.2,

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