rs1057519522

Orientation

minus

Stabilized

minus

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

Make rs1057519522(C;T)

Make rs1057519522(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

10

Position

129877788

Gene

EBF3

is a	snp
is	mentioned by
dbSNP	rs1057519522
dbSNP (classic)	rs1057519522
ClinGen	rs1057519522
ebi	rs1057519522
HLI	rs1057519522
Exac	rs1057519522
Gnomad	rs1057519522
Varsome	rs1057519522
LitVar	rs1057519522
Map	rs1057519522
PheGenI	rs1057519522
Biobank	rs1057519522
1000 genomes	rs1057519522
hgdp	rs1057519522
ensembl	rs1057519522
geneview	rs1057519522
scholar	rs1057519522
google	rs1057519522
pharmgkb	rs1057519522
gwascentral	rs1057519522
openSNP	rs1057519522
23andMe	rs1057519522
SNPshot	rs1057519522
SNPdbe	rs1057519522
MSV3d	rs1057519522
GWAS Ctlg	rs1057519522

Max Magnitude

0

ClinVar
Risk	rs1057519522(T;T)
Alt	rs1057519522(T;T)
Reference	Rs1057519522(C;C)
Significance	Pathogenic
Disease	Hypotonia
Variation	info
Gene	EBF3
CLNDBN	Hypotonia, ataxia, and delayed development syndrome
Reversed	1
HGVS	NC_000010.10:g.131676052G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000417012.1,