rs1057519437

Orientation

minus

Stabilized

minus

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

Make rs1057519437(A;A)

Make rs1057519437(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

10

Position

129957300

Gene

EBF3

is a	snp
is	mentioned by
dbSNP	rs1057519437
dbSNP (classic)	rs1057519437
ClinGen	rs1057519437
ebi	rs1057519437
HLI	rs1057519437
Exac	rs1057519437
Gnomad	rs1057519437
Varsome	rs1057519437
LitVar	rs1057519437
Map	rs1057519437
PheGenI	rs1057519437
Biobank	rs1057519437
1000 genomes	rs1057519437
hgdp	rs1057519437
ensembl	rs1057519437
geneview	rs1057519437
scholar	rs1057519437
google	rs1057519437
pharmgkb	rs1057519437
gwascentral	rs1057519437
openSNP	rs1057519437
23andMe	rs1057519437
SNPshot	rs1057519437
SNPdbe	rs1057519437
MSV3d	rs1057519437
GWAS Ctlg	rs1057519437

Max Magnitude

0

ClinVar
Risk	rs1057519437(A;A)
Alt	rs1057519437(A;A)
Reference	Rs1057519437(G;G)
Significance	Pathogenic
Disease	Broad-based gait Developmental regression Generalized hypotonia Neurogenic bladder Renal dysplasia
Variation	info
Gene	EBF3
CLNDBN	Broad-based gait Developmental regression Generalized hypotonia Neurogenic bladder Renal dysplasia
Reversed	1
HGVS	NC_000010.10:g.131755564C>T
CLNSRC
CLNACC	RCV000416467.1,