rs146312522

Orientation

plus

Stabilized

plus

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

Make rs146312522(A;A)

Make rs146312522(A;G)

Reference

GRCh38 38.1/142

Chromosome

8

Position

27788890

Gene

ESCO2

is a	snp
is	mentioned by
dbSNP	rs146312522
dbSNP (classic)	rs146312522
ClinGen	rs146312522
ebi	rs146312522
HLI	rs146312522
Exac	rs146312522
Gnomad	rs146312522
Varsome	rs146312522
LitVar	rs146312522
Map	rs146312522
PheGenI	rs146312522
Biobank	rs146312522
1000 genomes	rs146312522
hgdp	rs146312522
ensembl	rs146312522
geneview	rs146312522
scholar	rs146312522
google	rs146312522
pharmgkb	rs146312522
gwascentral	rs146312522
openSNP	rs146312522
23andMe	rs146312522
SNPshot	rs146312522
SNPdbe	rs146312522
MSV3d	rs146312522
GWAS Ctlg	rs146312522

Max Magnitude

0

ClinVar
Risk	rs146312522(A;A)
Alt	rs146312522(A;A)
Reference	Rs146312522(G;G)
Significance	Probable-Pathogenic
Disease	Roberts-SC phocomelia syndrome
Variation	info
Gene	ESCO2
CLNDBN	Roberts-SC phocomelia syndrome
Reversed	0
HGVS	NC_000008.10:g.27646407G>A
CLNSRC	ClinVar University of Chicago
CLNACC	RCV000145965.1,