rs80359851

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(GT;GT)	0	common in clinvar
(TG;TG)	0	common in clinvar

Make rs80359851(-;-)

Make rs80359851(-;GT)

Reference

GRCh38 38.1/141

Chromosome

8

Position

27777053

Gene

ESCO2

is a	snp
is	mentioned by
dbSNP	rs80359851
dbSNP (classic)	rs80359851
ClinGen	rs80359851
ebi	rs80359851
HLI	rs80359851
Exac	rs80359851
Gnomad	rs80359851
Varsome	rs80359851
LitVar	rs80359851
Map	rs80359851
PheGenI	rs80359851
Biobank	rs80359851
1000 genomes	rs80359851
hgdp	rs80359851
ensembl	rs80359851
geneview	rs80359851
scholar	rs80359851
google	rs80359851
pharmgkb	rs80359851
gwascentral	rs80359851
openSNP	rs80359851
23andMe	rs80359851
SNPshot	rs80359851
SNPdbe	rs80359851
MSV3d	rs80359851
GWAS Ctlg	rs80359851

Max Magnitude

0

ClinVar
Risk	rs80359851(-;-)
Alt	rs80359851(-;-)
Reference	Rs80359851(TG;TG)
Significance	Pathogenic
Disease	Roberts-SC phocomelia syndrome
Variation	info
Gene	ESCO2
CLNDBN	Roberts-SC phocomelia syndrome
Reversed	0
HGVS	NC_000008.10:g.27634570_27634571delGT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020408.1,

[PMID 16775838] A homozygous frameshift mutation in the ESCO2 gene: evidence of intertissue and interindividual variation in Nmd efficiency.