rs797045566

Orientation

plus

Stabilized

plus

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

Make rs797045566(-;A)

Make rs797045566(A;A)

Reference

GRCh38.p2 38.2/146

Chromosome

8

Position

27780223

Gene

ESCO2

is a	snp
is	mentioned by
dbSNP	rs797045566
dbSNP (classic)	rs797045566
ClinGen	rs797045566
ebi	rs797045566
HLI	rs797045566
Exac	rs797045566
Gnomad	rs797045566
Varsome	rs797045566
LitVar	rs797045566
Map	rs797045566
PheGenI	rs797045566
Biobank	rs797045566
1000 genomes	rs797045566
hgdp	rs797045566
ensembl	rs797045566
geneview	rs797045566
scholar	rs797045566
google	rs797045566
pharmgkb	rs797045566
gwascentral	rs797045566
openSNP	rs797045566
23andMe	rs797045566
SNPshot	rs797045566
SNPdbe	rs797045566
MSV3d	rs797045566
GWAS Ctlg	rs797045566

Max Magnitude

0

ClinVar
Risk	rs797045566(A;A)
Alt	rs797045566(A;A)
Reference	Rs797045566(-;-)
Significance	Pathogenic
Disease	Roberts-SC phocomelia syndrome
Variation	info
Gene	ESCO2
CLNDBN	Roberts-SC phocomelia syndrome
Reversed	0
HGVS	NC_000008.10:g.27637740dupA
CLNSRC
CLNACC	RCV000194407.1,