rs80359844

plus

Geno	Mag	Summary
(AT;AT)	0	common in clinvar
(I;I)	0	common genotype
(TA;TA)	0	common in clinvar

Make rs80359844(-;-)

Make rs80359844(-;AT)

Reference

GRCh38 38.1/141

Chromosome

8

Position

27776560

Gene

ESCO2

is a	snp
is	mentioned by
dbSNP	rs80359844
dbSNP (classic)	rs80359844
ClinGen	rs80359844
ebi	rs80359844
HLI	rs80359844
Exac	rs80359844
Gnomad	rs80359844
Varsome	rs80359844
LitVar	rs80359844
Map	rs80359844
PheGenI	rs80359844
Biobank	rs80359844
1000 genomes	rs80359844
hgdp	rs80359844
ensembl	rs80359844
geneview	rs80359844
scholar	rs80359844
google	rs80359844
pharmgkb	rs80359844
gwascentral	rs80359844
openSNP	rs80359844
23andMe	rs80359844
SNPshot	rs80359844
SNPdbe	rs80359844
MSV3d	rs80359844
GWAS Ctlg	rs80359844

Max Magnitude

0

ClinVar
Risk	rs80359844(-;-) Rs80359844(TA;TA)
Alt	rs80359844(-;-) Rs80359844(TA;TA)
Reference	Rs80359844(AT;AT)
Significance	Pathogenic
Disease	Roberts-SC phocomelia syndrome
Variation	info
Gene	ESCO2
CLNDBN	Roberts-SC phocomelia syndrome
Reversed	0
HGVS	NC_000008.10:g.27634077_27634078delAT
CLNSRC	ClinVar GeneReviews
CLNACC	RCV000020403.1,

[PMID 15821733] Roberts syndrome is caused by mutations in ESCO2, a human homolog of yeast ECO1 that is essential for the establishment of sister chromatid cohesion.