rs1057519519

Orientation

minus

Stabilized

minus

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

Make rs1057519519(A;G)

Make rs1057519519(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

10

Position

129958997

Gene

EBF3

is a	snp
is	mentioned by
dbSNP	rs1057519519
dbSNP (classic)	rs1057519519
ClinGen	rs1057519519
ebi	rs1057519519
HLI	rs1057519519
Exac	rs1057519519
Gnomad	rs1057519519
Varsome	rs1057519519
LitVar	rs1057519519
Map	rs1057519519
PheGenI	rs1057519519
Biobank	rs1057519519
1000 genomes	rs1057519519
hgdp	rs1057519519
ensembl	rs1057519519
geneview	rs1057519519
scholar	rs1057519519
google	rs1057519519
pharmgkb	rs1057519519
gwascentral	rs1057519519
openSNP	rs1057519519
23andMe	rs1057519519
SNPshot	rs1057519519
SNPdbe	rs1057519519
MSV3d	rs1057519519
GWAS Ctlg	rs1057519519

Max Magnitude

0

ClinVar
Risk	rs1057519519(G;G)
Alt	rs1057519519(G;G)
Reference	Rs1057519519(A;A)
Significance	Pathogenic
Disease	Hypotonia
Variation	info
Gene	EBF3
CLNDBN	Hypotonia, ataxia, and delayed development syndrome
Reversed	1
HGVS	NC_000010.10:g.131757261T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000417002.1,