rs1057519520

Orientation

minus

Stabilized

minus

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

Make rs1057519520(G;T)

Make rs1057519520(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

10

Position

129877825

Gene

EBF3

is a	snp
is	mentioned by
dbSNP	rs1057519520
dbSNP (classic)	rs1057519520
ClinGen	rs1057519520
ebi	rs1057519520
HLI	rs1057519520
Exac	rs1057519520
Gnomad	rs1057519520
Varsome	rs1057519520
LitVar	rs1057519520
Map	rs1057519520
PheGenI	rs1057519520
Biobank	rs1057519520
1000 genomes	rs1057519520
hgdp	rs1057519520
ensembl	rs1057519520
geneview	rs1057519520
scholar	rs1057519520
google	rs1057519520
pharmgkb	rs1057519520
gwascentral	rs1057519520
openSNP	rs1057519520
23andMe	rs1057519520
SNPshot	rs1057519520
SNPdbe	rs1057519520
MSV3d	rs1057519520
GWAS Ctlg	rs1057519520

Max Magnitude

0

ClinVar
Risk	rs1057519520(T;T)
Alt	rs1057519520(T;T)
Reference	Rs1057519520(G;G)
Significance	Pathogenic
Disease	Hypotonia
Variation	info
Gene	EBF3
CLNDBN	Hypotonia, ataxia, and delayed development syndrome
Reversed	1
HGVS	NC_000010.10:g.131676089C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000416948.1,