rs80359869

Orientation

plus

Stabilized

plus

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

Make rs80359869(A;G)

Make rs80359869(G;G)

Reference

GRCh38 38.1/141

Chromosome

8

Position

27803304

Gene

ESCO2

is a	snp
is	mentioned by
dbSNP	rs80359869
dbSNP (classic)	rs80359869
ClinGen	rs80359869
ebi	rs80359869
HLI	rs80359869
Exac	rs80359869
Gnomad	rs80359869
Varsome	rs80359869
LitVar	rs80359869
Map	rs80359869
PheGenI	rs80359869
Biobank	rs80359869
1000 genomes	rs80359869
hgdp	rs80359869
ensembl	rs80359869
geneview	rs80359869
scholar	rs80359869
google	rs80359869
pharmgkb	rs80359869
gwascentral	rs80359869
openSNP	rs80359869
23andMe	rs80359869
SNPshot	rs80359869
SNPdbe	rs80359869
MSV3d	rs80359869
GWAS Ctlg	rs80359869

Max Magnitude

0

ClinVar
Risk	rs80359869(G;G)
Alt	rs80359869(G;G)
Reference	Rs80359869(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.27660821A>G
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020401.1,

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