rs1057519518

Orientation

minus

Stabilized

minus

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

Make rs1057519518(A;G)

Make rs1057519518(G;G)

Reference

GRCh38.p7 38.3/150

Chromosome

10

Position

129963462

Gene

EBF3

is a	snp
is	mentioned by
dbSNP	rs1057519518
dbSNP (classic)	rs1057519518
ClinGen	rs1057519518
ebi	rs1057519518
HLI	rs1057519518
Exac	rs1057519518
Gnomad	rs1057519518
Varsome	rs1057519518
LitVar	rs1057519518
Map	rs1057519518
PheGenI	rs1057519518
Biobank	rs1057519518
1000 genomes	rs1057519518
hgdp	rs1057519518
ensembl	rs1057519518
geneview	rs1057519518
scholar	rs1057519518
google	rs1057519518
pharmgkb	rs1057519518
gwascentral	rs1057519518
openSNP	rs1057519518
23andMe	rs1057519518
SNPshot	rs1057519518
SNPdbe	rs1057519518
MSV3d	rs1057519518
GWAS Ctlg	rs1057519518

Max Magnitude

0

ClinVar
Risk	rs1057519518(G;G)
Alt	rs1057519518(G;G)
Reference	Rs1057519518(A;A)
Significance	Pathogenic
Disease	Hypotonia
Variation	info
Gene	EBF3
CLNDBN	Hypotonia, ataxia, and delayed development syndrome
Reversed	1
HGVS	NC_000010.10:g.131761726T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000416941.1,