rs1057519092

Orientation

minus

Stabilized

minus

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

Make rs1057519092(C;T)

Make rs1057519092(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

10

Position

129957325

Gene

EBF3

is a	snp
is	mentioned by
dbSNP	rs1057519092
dbSNP (classic)	rs1057519092
ClinGen	rs1057519092
ebi	rs1057519092
HLI	rs1057519092
Exac	rs1057519092
Gnomad	rs1057519092
Varsome	rs1057519092
LitVar	rs1057519092
Map	rs1057519092
PheGenI	rs1057519092
Biobank	rs1057519092
1000 genomes	rs1057519092
hgdp	rs1057519092
ensembl	rs1057519092
geneview	rs1057519092
scholar	rs1057519092
google	rs1057519092
pharmgkb	rs1057519092
gwascentral	rs1057519092
openSNP	rs1057519092
23andMe	rs1057519092
SNPshot	rs1057519092
SNPdbe	rs1057519092
MSV3d	rs1057519092
GWAS Ctlg	rs1057519092

Max Magnitude

0

ClinVar
Risk	rs1057519092(T;T)
Alt	rs1057519092(T;T)
Reference	Rs1057519092(C;C)
Significance	Pathogenic
Disease	EBF3-related disorder
Variation	info
Gene	EBF3
CLNDBN	EBF3-related disorder
Reversed	1
HGVS	NC_000010.10:g.131755589G>A
CLNSRC
CLNACC	RCV000415489.1,