rs1057519521

Orientation

minus

Stabilized

minus

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

Make rs1057519521(-;-)

Make rs1057519521(-;GAGA)

Reference

GRCh38.p7 38.3/150

Chromosome

10

Position

129963375

Gene

EBF3

is a	snp
is	mentioned by
dbSNP	rs1057519521
dbSNP (classic)	rs1057519521
ClinGen	rs1057519521
ebi	rs1057519521
HLI	rs1057519521
Exac	rs1057519521
Gnomad	rs1057519521
Varsome	rs1057519521
LitVar	rs1057519521
Map	rs1057519521
PheGenI	rs1057519521
Biobank	rs1057519521
1000 genomes	rs1057519521
hgdp	rs1057519521
ensembl	rs1057519521
geneview	rs1057519521
scholar	rs1057519521
google	rs1057519521
pharmgkb	rs1057519521
gwascentral	rs1057519521
openSNP	rs1057519521
23andMe	rs1057519521
SNPshot	rs1057519521
SNPdbe	rs1057519521
MSV3d	rs1057519521
GWAS Ctlg	rs1057519521

Max Magnitude

0

ClinVar
Risk	rs1057519521(-;-)
Alt	rs1057519521(-;-)
Reference	Rs1057519521(GAGA;GAGA)
Significance	Pathogenic
Disease	Hypotonia
Variation	info
Gene	EBF3
CLNDBN	Hypotonia, ataxia, and delayed development syndrome
Reversed	1
HGVS	NC_000010.10:g.131761639_131761642delTCTC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000416978.1,