rs80359865

Orientation

plus

Stabilized

plus

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

Make rs80359865(A;A)

Make rs80359865(A;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

27792650

Gene

ESCO2

is a	snp
is	mentioned by
dbSNP	rs80359865
dbSNP (classic)	rs80359865
ClinGen	rs80359865
ebi	rs80359865
HLI	rs80359865
Exac	rs80359865
Gnomad	rs80359865
Varsome	rs80359865
LitVar	rs80359865
Map	rs80359865
PheGenI	rs80359865
Biobank	rs80359865
1000 genomes	rs80359865
hgdp	rs80359865
ensembl	rs80359865
geneview	rs80359865
scholar	rs80359865
google	rs80359865
pharmgkb	rs80359865
gwascentral	rs80359865
openSNP	rs80359865
23andMe	rs80359865
SNPshot	rs80359865
SNPdbe	rs80359865
MSV3d	rs80359865
GWAS Ctlg	rs80359865

Max Magnitude

0

ClinVar
Risk	rs80359865(A;A) rs80359865(C;C)
Alt	rs80359865(A;A) rs80359865(C;C)
Reference	Rs80359865(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.27650167G>A
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020398.1,

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