rs80359867

Orientation

plus

Stabilized

plus

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

Make rs80359867(-;T)

Reference

GRCh38 38.1/141

Chromosome

8

Position

27799640

Gene

ESCO2

is a	snp
is	mentioned by
dbSNP	rs80359867
dbSNP (classic)	rs80359867
ClinGen	rs80359867
ebi	rs80359867
HLI	rs80359867
Exac	rs80359867
Gnomad	rs80359867
Varsome	rs80359867
LitVar	rs80359867
Map	rs80359867
PheGenI	rs80359867
Biobank	rs80359867
1000 genomes	rs80359867
hgdp	rs80359867
ensembl	rs80359867
geneview	rs80359867
scholar	rs80359867
google	rs80359867
pharmgkb	rs80359867
gwascentral	rs80359867
openSNP	rs80359867
23andMe	rs80359867
SNPshot	rs80359867
SNPdbe	rs80359867
MSV3d	rs80359867
GWAS Ctlg	rs80359867

Max Magnitude

0

ClinVar
Risk	Rs80359867(T;T) rs80359867(TG;TG)
Alt	Rs80359867(T;T) rs80359867(TG;TG)
Reference	Rs80359867(-;-)
Significance	Pathogenic
Disease	Roberts-SC phocomelia syndrome
Variation	info
Gene	ESCO2
CLNDBN	Roberts-SC phocomelia syndrome
Reversed	0
HGVS	NC_000008.10:g.27657157dupT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020400.1,

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