rs1057519389

Orientation

minus

Stabilized

minus

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

Make rs1057519389(G;T)

Make rs1057519389(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

10

Position

129957324

Gene

EBF3

is a	snp
is	mentioned by
dbSNP	rs1057519389
dbSNP (classic)	rs1057519389
ClinGen	rs1057519389
ebi	rs1057519389
HLI	rs1057519389
Exac	rs1057519389
Gnomad	rs1057519389
Varsome	rs1057519389
LitVar	rs1057519389
Map	rs1057519389
PheGenI	rs1057519389
Biobank	rs1057519389
1000 genomes	rs1057519389
hgdp	rs1057519389
ensembl	rs1057519389
geneview	rs1057519389
scholar	rs1057519389
google	rs1057519389
pharmgkb	rs1057519389
gwascentral	rs1057519389
openSNP	rs1057519389
23andMe	rs1057519389
SNPshot	rs1057519389
SNPdbe	rs1057519389
MSV3d	rs1057519389
GWAS Ctlg	rs1057519389

Max Magnitude

0

ClinVar
Risk	rs1057519389(A;A) rs1057519389(C;C) rs1057519389(T;T)
Alt	rs1057519389(A;A) rs1057519389(C;C) rs1057519389(T;T)
Reference	Rs1057519389(G;G)
Significance	Pathogenic
Disease	Hypotonia Ataxia Expressive language delay Global developmental delay Intellectual disability Muscular hypotonia not provided
Variation	info
Gene	EBF3
CLNDBN	Hypotonia, ataxia, and delayed development syndrome Ataxia Expressive language delay Global developmental delay Intellectual disability Muscular hypotonia not provided
Reversed	1
HGVS	NC_000010.10:g.131755588C>A; NC_000010.10:g.131755588C>G; NC_000010.10:g.131755588C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000416975.2, RCV000417075.1, RCV000493860.1, RCV000417019.1, RCV000416944.2, RCV000417073.1,