rs80359846

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(AAAAG;AAAAG)	0	common in clinvar
(AAAGA;AAAGA)	0	common in clinvar
(I;I)	0	common genotype

Make rs80359846(-;-)

Make rs80359846(-;AAAGA)

Reference

GRCh38 38.1/141

Chromosome

8

Position

27776615

Gene

ESCO2

is a	snp
is	mentioned by
dbSNP	rs80359846
dbSNP (classic)	rs80359846
ClinGen	rs80359846
ebi	rs80359846
HLI	rs80359846
Exac	rs80359846
Gnomad	rs80359846
Varsome	rs80359846
LitVar	rs80359846
Map	rs80359846
PheGenI	rs80359846
Biobank	rs80359846
1000 genomes	rs80359846
hgdp	rs80359846
ensembl	rs80359846
geneview	rs80359846
scholar	rs80359846
google	rs80359846
pharmgkb	rs80359846
gwascentral	rs80359846
openSNP	rs80359846
23andMe	rs80359846
SNPshot	rs80359846
SNPdbe	rs80359846
MSV3d	rs80359846
GWAS Ctlg	rs80359846

Max Magnitude

0

ClinVar
Risk	rs80359846(-;-)
Alt	rs80359846(-;-)
Reference	Rs80359846(AAAAG;AAAAG)
Significance	Pathogenic
Disease	Roberts-SC phocomelia syndrome
Variation	info
Gene	ESCO2
CLNDBN	Roberts-SC phocomelia syndrome
Reversed	0
HGVS	NC_000008.10:g.27634132_27634136delAAAGA
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020405.1,

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